Canonical Allele Identifier: CA4293278
Community Standard Title: NM_000501.4(ELN):c.1884C>T (p.Ala628=)
Gene: ELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74063335C>T , CM000669.2:g.74063335C>T GRCh38
NC_000007.13:g.73477665C>T , CM000669.1:g.73477665C>T GRCh37
NC_000007.12:g.73115601C>T NCBI36
NG_009261.1:g.40239C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000501.4:c.1884C>T MANE Select NP_000492.2:p.Ala628=
ENST00000252034.12:c.1884C>T MANE Select ENSP00000252034.7:p.Ala628=
NM_000501.3:c.1884C>T NP_000492.2:p.Ala628=
NM_001081752.2:c.1797C>T NP_001075221.1:p.Ala599=
NM_001081752.3:c.1797C>T NP_001075221.1:p.Ala599=
NM_001081753.2:c.1842C>T NP_001075222.1:p.Ala614=
NM_001081753.3:c.1842C>T NP_001075222.1:p.Ala614=
NM_001081754.2:c.1899C>T NP_001075223.1:p.Ala633=
NM_001081754.3:c.1899C>T NP_001075223.1:p.Ala633=
NM_001081755.2:c.1827C>T NP_001075224.1:p.Ala609=
NM_001081755.3:c.1827C>T NP_001075224.1:p.Ala609=
NM_001278912.1:c.1884C>T NP_001265841.1:p.Ala628=
NM_001278912.2:c.1884C>T NP_001265841.1:p.Ala628=
NM_001278913.1:c.1641C>T NP_001265842.1:p.Ala547=
NM_001278913.2:c.1641C>T NP_001265842.1:p.Ala547=
NM_001278914.1:c.1812C>T NP_001265843.1:p.Ala604=
NM_001278914.2:c.1812C>T NP_001265843.1:p.Ala604=
NM_001278915.1:c.1902C>T NP_001265844.1:p.Ala634=
NM_001278915.2:c.1902C>T NP_001265844.1:p.Ala634=
NM_001278916.1:c.1740C>T NP_001265845.1:p.Ala580=
NM_001278916.2:c.1740C>T NP_001265845.1:p.Ala580=
NM_001278917.1:c.1854C>T NP_001265846.1:p.Ala618=
NM_001278917.2:c.1854C>T NP_001265846.1:p.Ala618=
NM_001278918.1:c.1617C>T NP_001265847.1:p.Ala539=
NM_001278918.2:c.1617C>T NP_001265847.1:p.Ala539=
NM_001278939.1:c.2070C>T NP_001265868.1:p.Ala690=
NM_001278939.2:c.2070C>T NP_001265868.1:p.Ala690=
ENST00000252034.11:c.1884C>T ENSP00000252034.7:p.Ala628=
ENST00000320399.10:c.1983C>T ENSP00000313565.6:p.Ala661=
ENST00000320492.11:c.1641C>T ENSP00000315607.7:p.Ala547=
ENST00000357036.9:c.1899C>T ENSP00000349540.5:p.Ala633=
ENST00000358929.8:c.2070C>T ENSP00000351807.5:p.Ala690=
ENST00000380553.8:c.1476C>T ENSP00000369926.4:p.Ala492=
ENST00000380562.8:c.1902C>T ENSP00000369936.4:p.Ala634=
ENST00000380575.8:c.1797C>T ENSP00000369949.4:p.Ala599=
ENST00000380576.9:c.1827C>T ENSP00000369950.5:p.Ala609=
ENST00000380584.8:c.1740C>T ENSP00000369958.4:p.Ala580=
ENST00000414324.5:c.1812C>T ENSP00000392575.1:p.Ala604=
ENST00000429192.5:c.1842C>T ENSP00000391129.1:p.Ala614=
ENST00000445912.5:c.1884C>T ENSP00000389857.1:p.Ala628=
ENST00000458204.5:c.1854C>T ENSP00000403162.1:p.Ala618=
ENST00000621115.4:c.1617C>T ENSP00000480955.1:p.Ala539=
ENST00000692049.1:c.2070C>T ENSP00000510104.1:p.Ala690=
XM_005250187.1:c.1848C>T XP_005250244.1:p.Ala616=
XM_005250187.2:c.1848C>T XP_005250244.1:p.Ala616=
XM_005250188.1:c.1842C>T XP_005250245.1:p.Ala614=
XM_005250188.2:c.1842C>T XP_005250245.1:p.Ala614=
XM_011515868.1:c.1899C>T XP_011514170.1:p.Ala633=
XM_011515868.2:c.1899C>T XP_011514170.1:p.Ala633=
XM_011515869.1:c.1869C>T XP_011514171.1:p.Ala623=
XM_011515870.1:c.1863C>T XP_011514172.1:p.Ala621=
XM_011515871.1:c.1857C>T XP_011514173.1:p.Ala619=
XM_011515871.2:c.1857C>T XP_011514173.1:p.Ala619=
XM_011515872.1:c.1845C>T XP_011514174.1:p.Ala615=
XM_011515872.2:c.1845C>T XP_011514174.1:p.Ala615=
XM_011515873.1:c.1842C>T XP_011514175.1:p.Ala614=
XM_011515873.2:c.1842C>T XP_011514175.1:p.Ala614=
XM_011515874.1:c.1833C>T XP_011514176.1:p.Ala611=
XM_011515875.1:c.1818C>T XP_011514177.1:p.Ala606=
XM_011515875.2:c.1818C>T XP_011514177.1:p.Ala606=
XM_011515876.1:c.1899C>T XP_011514178.1:p.Ala633=
XM_011515876.2:c.1899C>T XP_011514178.1:p.Ala633=
XM_011515877.1:c.1788C>T XP_011514179.1:p.Ala596=
XM_011515877.2:c.1788C>T XP_011514179.1:p.Ala596=
XM_017011813.1:c.1812C>T XP_016867302.1:p.Ala604=
XM_017011814.2:c.1800C>T XP_016867303.1:p.Ala600=