Canonical Allele Identifier: CA4293344

Gene: ELN

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74065733G>A , CM000669.2:g.74065733G>A	GRCh38
NC_000007.13:g.73480063G>A , CM000669.1:g.73480063G>A	GRCh37
NC_000007.12:g.73117999G>A	NCBI36
NG_009261.1:g.42637G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000501.4:c.2032+1G>A MANE Select	NP_000492.2:n.2032+1G>A
ENST00000252034.12:c.2032+1G>A MANE Select	ENSP00000252034.7:n.2032+1G>A
NM_000501.3:c.2032+1G>A	NP_000492.2:n.2032+1G>A
NM_001081752.2:c.1945+1G>A	NP_001075221.1:n.1945+1G>A
NM_001081752.3:c.1945+1G>A	NP_001075221.1:n.1945+1G>A
NM_001081753.2:c.1990+1G>A	NP_001075222.1:n.1990+1G>A
NM_001081753.3:c.1990+1G>A	NP_001075222.1:n.1990+1G>A
NM_001081754.2:c.2047+1G>A	NP_001075223.1:n.2047+1G>A
NM_001081754.3:c.2047+1G>A	NP_001075223.1:n.2047+1G>A
NM_001081755.2:c.1975+1G>A	NP_001075224.1:n.1975+1G>A
NM_001081755.3:c.1975+1G>A	NP_001075224.1:n.1975+1G>A
NM_001278912.1:c.2032+1G>A	NP_001265841.1:n.2032+1G>A
NM_001278912.2:c.2032+1G>A	NP_001265841.1:n.2032+1G>A
NM_001278913.1:c.1789+1G>A	NP_001265842.1:n.1789+1G>A
NM_001278913.2:c.1789+1G>A	NP_001265842.1:n.1789+1G>A
NM_001278914.1:c.1960+1G>A	NP_001265843.1:n.1960+1G>A
NM_001278914.2:c.1960+1G>A	NP_001265843.1:n.1960+1G>A
NM_001278915.1:c.2050+1G>A	NP_001265844.1:n.2050+1G>A
NM_001278915.2:c.2050+1G>A	NP_001265844.1:n.2050+1G>A
NM_001278916.1:c.1888+1G>A	NP_001265845.1:n.1888+1G>A
NM_001278916.2:c.1888+1G>A	NP_001265845.1:n.1888+1G>A
NM_001278917.1:c.2002+1G>A	NP_001265846.1:n.2002+1G>A
NM_001278917.2:c.2002+1G>A	NP_001265846.1:n.2002+1G>A
NM_001278918.1:c.1765+1G>A	NP_001265847.1:n.1765+1G>A
NM_001278918.2:c.1765+1G>A	NP_001265847.1:n.1765+1G>A
NM_001278939.1:c.2218+1G>A	NP_001265868.1:n.2218+1G>A
NM_001278939.2:c.2218+1G>A	NP_001265868.1:n.2218+1G>A
ENST00000252034.11:c.2032+1G>A	ENSP00000252034.7:n.2032+1G>A
ENST00000320399.10:c.2131+1G>A	ENSP00000313565.6:n.2131+1G>A
ENST00000320492.11:c.1789+1G>A	ENSP00000315607.7:n.1789+1G>A
ENST00000357036.9:c.2047+1G>A	ENSP00000349540.5:n.2047+1G>A
ENST00000358929.8:c.2218+1G>A	ENSP00000351807.5:n.2218+1G>A
ENST00000380553.8:c.1624+1G>A	ENSP00000369926.4:n.1624+1G>A
ENST00000380562.8:c.2050+1G>A	ENSP00000369936.4:n.2050+1G>A
ENST00000380575.8:c.1945+1G>A	ENSP00000369949.4:n.1945+1G>A
ENST00000380576.9:c.1975+1G>A	ENSP00000369950.5:n.1975+1G>A
ENST00000380584.8:c.1888+1G>A	ENSP00000369958.4:n.1888+1G>A
ENST00000414324.5:c.1960+1G>A	ENSP00000392575.1:n.1960+1G>A
ENST00000429192.5:c.1990+1G>A	ENSP00000391129.1:n.1990+1G>A
ENST00000445912.5:c.2032+1G>A	ENSP00000389857.1:n.2032+1G>A
ENST00000458204.5:c.2002+1G>A	ENSP00000403162.1:n.2002+1G>A
ENST00000621115.4:c.1765+1G>A	ENSP00000480955.1:n.1765+1G>A
ENST00000692049.1:c.2218+1G>A	ENSP00000510104.1:n.2218+1G>A
XM_005250187.1:c.1996+1G>A	XP_005250244.1:n.1996+1G>A
XM_005250187.2:c.1996+1G>A	XP_005250244.1:n.1996+1G>A
XM_005250188.1:c.1990+1G>A	XP_005250245.1:n.1990+1G>A
XM_005250188.2:c.1990+1G>A	XP_005250245.1:n.1990+1G>A
XM_011515868.1:c.2047+1G>A	XP_011514170.1:n.2047+1G>A
XM_011515868.2:c.2047+1G>A	XP_011514170.1:n.2047+1G>A
XM_011515869.1:c.2017+1G>A	XP_011514171.1:n.2017+1G>A
XM_011515870.1:c.2011+1G>A	XP_011514172.1:n.2011+1G>A
XM_011515871.1:c.2005+1G>A	XP_011514173.1:n.2005+1G>A
XM_011515871.2:c.2005+1G>A	XP_011514173.1:n.2005+1G>A
XM_011515872.1:c.1993+1G>A	XP_011514174.1:n.1993+1G>A
XM_011515872.2:c.1993+1G>A	XP_011514174.1:n.1993+1G>A
XM_011515873.1:c.1990+1G>A	XP_011514175.1:n.1990+1G>A
XM_011515873.2:c.1990+1G>A	XP_011514175.1:n.1990+1G>A
XM_011515874.1:c.1981+1G>A	XP_011514176.1:n.1981+1G>A
XM_011515875.1:c.1966+1G>A	XP_011514177.1:n.1966+1G>A
XM_011515875.2:c.1966+1G>A	XP_011514177.1:n.1966+1G>A
XM_011515876.1:c.2047+1G>A	XP_011514178.1:n.2047+1G>A
XM_011515876.2:c.2047+1G>A	XP_011514178.1:n.2047+1G>A
XM_011515877.1:c.1936+1G>A	XP_011514179.1:n.1936+1G>A
XM_011515877.2:c.1936+1G>A	XP_011514179.1:n.1936+1G>A
XM_017011813.1:c.1960+1G>A	XP_016867302.1:n.1960+1G>A
XM_017011814.2:c.1948+1G>A	XP_016867303.1:n.1948+1G>A