Canonical Allele Identifier: CA2683272734

Gene: ELN

Linked Data

• gnomAD v4: 7-74063099-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74063099A>T , CM000669.2:g.74063099A>T	GRCh38
NC_000007.13:g.73477429A>T , CM000669.1:g.73477429A>T	GRCh37
NC_000007.12:g.73115365A>T	NCBI36
NG_009261.1:g.40003A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.1973-54A>T	ENSP00000510104.1:n.1973-54A>T
ENST00000252034.12:c.1787-54A>T MANE Select	ENSP00000252034.7:n.1787-54A>T
ENST00000252034.11:c.1787-54A>T	ENSP00000252034.7:n.1787-54A>T
ENST00000320399.10:c.1886-54A>T	ENSP00000313565.6:n.1886-54A>T
ENST00000320492.11:c.1544-54A>T	ENSP00000315607.7:n.1544-54A>T
ENST00000357036.9:c.1802-54A>T	ENSP00000349540.5:n.1802-54A>T
ENST00000358929.8:c.1973-54A>T	ENSP00000351807.5:n.1973-54A>T
ENST00000380553.8:c.1379-54A>T	ENSP00000369926.4:n.1379-54A>T
ENST00000380562.8:c.1805-54A>T	ENSP00000369936.4:n.1805-54A>T
ENST00000380575.8:c.1700-54A>T	ENSP00000369949.4:n.1700-54A>T
ENST00000380576.9:c.1730-54A>T	ENSP00000369950.5:n.1730-54A>T
ENST00000380584.8:c.1643-54A>T	ENSP00000369958.4:n.1643-54A>T
ENST00000414324.5:c.1715-54A>T	ENSP00000392575.1:n.1715-54A>T
ENST00000429192.5:c.1745-54A>T	ENSP00000391129.1:n.1745-54A>T
ENST00000445912.5:c.1787-54A>T	ENSP00000389857.1:n.1787-54A>T
ENST00000458204.5:c.1757-54A>T	ENSP00000403162.1:n.1757-54A>T
ENST00000621115.4:c.1520-54A>T	ENSP00000480955.1:n.1520-54A>T
NM_000501.3:c.1787-54A>T	NP_000492.2:n.1787-54A>T
NM_001081752.2:c.1700-54A>T	NP_001075221.1:n.1700-54A>T
NM_001081753.2:c.1745-54A>T	NP_001075222.1:n.1745-54A>T
NM_001081754.2:c.1802-54A>T	NP_001075223.1:n.1802-54A>T
NM_001081755.2:c.1730-54A>T	NP_001075224.1:n.1730-54A>T
NM_001278912.1:c.1787-54A>T	NP_001265841.1:n.1787-54A>T
NM_001278913.1:c.1544-54A>T	NP_001265842.1:n.1544-54A>T
NM_001278914.1:c.1715-54A>T	NP_001265843.1:n.1715-54A>T
NM_001278915.1:c.1805-54A>T	NP_001265844.1:n.1805-54A>T
NM_001278916.1:c.1643-54A>T	NP_001265845.1:n.1643-54A>T
NM_001278917.1:c.1757-54A>T	NP_001265846.1:n.1757-54A>T
NM_001278918.1:c.1520-54A>T	NP_001265847.1:n.1520-54A>T
NM_001278939.1:c.1973-54A>T	NP_001265868.1:n.1973-54A>T
XM_005250187.1:c.1751-54A>T	XP_005250244.1:n.1751-54A>T
XM_005250188.1:c.1745-54A>T	XP_005250245.1:n.1745-54A>T
XM_011515868.1:c.1802-54A>T	XP_011514170.1:n.1802-54A>T
XM_011515869.1:c.1772-54A>T	XP_011514171.1:n.1772-54A>T
XM_011515870.1:c.1766-54A>T	XP_011514172.1:n.1766-54A>T
XM_011515871.1:c.1760-54A>T	XP_011514173.1:n.1760-54A>T
XM_011515872.1:c.1748-54A>T	XP_011514174.1:n.1748-54A>T
XM_011515873.1:c.1745-54A>T	XP_011514175.1:n.1745-54A>T
XM_011515874.1:c.1736-54A>T	XP_011514176.1:n.1736-54A>T
XM_011515875.1:c.1721-54A>T	XP_011514177.1:n.1721-54A>T
XM_011515876.1:c.1802-54A>T	XP_011514178.1:n.1802-54A>T
XM_011515877.1:c.1691-54A>T	XP_011514179.1:n.1691-54A>T
XM_005250187.2:c.1751-54A>T	XP_005250244.1:n.1751-54A>T
XM_005250188.2:c.1745-54A>T	XP_005250245.1:n.1745-54A>T
XM_011515868.2:c.1802-54A>T	XP_011514170.1:n.1802-54A>T
XM_011515871.2:c.1760-54A>T	XP_011514173.1:n.1760-54A>T
XM_011515872.2:c.1748-54A>T	XP_011514174.1:n.1748-54A>T
XM_011515873.2:c.1745-54A>T	XP_011514175.1:n.1745-54A>T
XM_011515875.2:c.1721-54A>T	XP_011514177.1:n.1721-54A>T
XM_011515876.2:c.1802-54A>T	XP_011514178.1:n.1802-54A>T
XM_011515877.2:c.1691-54A>T	XP_011514179.1:n.1691-54A>T
XM_017011813.1:c.1715-54A>T	XP_016867302.1:n.1715-54A>T
XM_017011814.2:c.1703-54A>T	XP_016867303.1:n.1703-54A>T
NM_000501.4:c.1787-54A>T MANE Select	NP_000492.2:n.1787-54A>T
NM_001081752.3:c.1700-54A>T	NP_001075221.1:n.1700-54A>T
NM_001081753.3:c.1745-54A>T	NP_001075222.1:n.1745-54A>T
NM_001081754.3:c.1802-54A>T	NP_001075223.1:n.1802-54A>T
NM_001081755.3:c.1730-54A>T	NP_001075224.1:n.1730-54A>T
NM_001278912.2:c.1787-54A>T	NP_001265841.1:n.1787-54A>T
NM_001278913.2:c.1544-54A>T	NP_001265842.1:n.1544-54A>T
NM_001278914.2:c.1715-54A>T	NP_001265843.1:n.1715-54A>T
NM_001278915.2:c.1805-54A>T	NP_001265844.1:n.1805-54A>T
NM_001278916.2:c.1643-54A>T	NP_001265845.1:n.1643-54A>T
NM_001278917.2:c.1757-54A>T	NP_001265846.1:n.1757-54A>T
NM_001278918.2:c.1520-54A>T	NP_001265847.1:n.1520-54A>T
NM_001278939.2:c.1973-54A>T	NP_001265868.1:n.1973-54A>T