Canonical Allele Identifier: CA367889270
Gene: ELN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74063158G>T , CM000669.2:g.74063158G>T GRCh38
NC_000007.13:g.73477488G>T , CM000669.1:g.73477488G>T GRCh37
NC_000007.12:g.73115424G>T NCBI36
NG_009261.1:g.40062G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000692049.1:c.1978G>T ENSP00000510104.1:p.Ala660Ser
ENST00000252034.12:c.1792G>T MANE Select ENSP00000252034.7:p.Ala598Ser
ENST00000252034.11:c.1792G>T ENSP00000252034.7:p.Ala598Ser
ENST00000320399.10:c.1891G>T ENSP00000313565.6:p.Ala631Ser
ENST00000320492.11:c.1549G>T ENSP00000315607.7:p.Ala517Ser
ENST00000357036.9:c.1807G>T ENSP00000349540.5:p.Ala603Ser
ENST00000358929.8:c.1978G>T ENSP00000351807.5:p.Ala660Ser
ENST00000380553.8:c.1384G>T ENSP00000369926.4:p.Ala462Ser
ENST00000380562.8:c.1810G>T ENSP00000369936.4:p.Ala604Ser
ENST00000380575.8:c.1705G>T ENSP00000369949.4:p.Ala569Ser
ENST00000380576.9:c.1735G>T ENSP00000369950.5:p.Ala579Ser
ENST00000380584.8:c.1648G>T ENSP00000369958.4:p.Ala550Ser
ENST00000414324.5:c.1720G>T ENSP00000392575.1:p.Ala574Ser
ENST00000429192.5:c.1750G>T ENSP00000391129.1:p.Ala584Ser
ENST00000445912.5:c.1792G>T ENSP00000389857.1:p.Ala598Ser
ENST00000458204.5:c.1762G>T ENSP00000403162.1:p.Ala588Ser
ENST00000621115.4:c.1525G>T ENSP00000480955.1:p.Ala509Ser
NM_000501.3:c.1792G>T NP_000492.2:p.Ala598Ser
NM_001081752.2:c.1705G>T NP_001075221.1:p.Ala569Ser
NM_001081753.2:c.1750G>T NP_001075222.1:p.Ala584Ser
NM_001081754.2:c.1807G>T NP_001075223.1:p.Ala603Ser
NM_001081755.2:c.1735G>T NP_001075224.1:p.Ala579Ser
NM_001278912.1:c.1792G>T NP_001265841.1:p.Ala598Ser
NM_001278913.1:c.1549G>T NP_001265842.1:p.Ala517Ser
NM_001278914.1:c.1720G>T NP_001265843.1:p.Ala574Ser
NM_001278915.1:c.1810G>T NP_001265844.1:p.Ala604Ser
NM_001278916.1:c.1648G>T NP_001265845.1:p.Ala550Ser
NM_001278917.1:c.1762G>T NP_001265846.1:p.Ala588Ser
NM_001278918.1:c.1525G>T NP_001265847.1:p.Ala509Ser
NM_001278939.1:c.1978G>T NP_001265868.1:p.Ala660Ser
XM_005250187.1:c.1756G>T XP_005250244.1:p.Ala586Ser
XM_005250188.1:c.1750G>T XP_005250245.1:p.Ala584Ser
XM_011515868.1:c.1807G>T XP_011514170.1:p.Ala603Ser
XM_011515869.1:c.1777G>T XP_011514171.1:p.Ala593Ser
XM_011515870.1:c.1771G>T XP_011514172.1:p.Ala591Ser
XM_011515871.1:c.1765G>T XP_011514173.1:p.Ala589Ser
XM_011515872.1:c.1753G>T XP_011514174.1:p.Ala585Ser
XM_011515873.1:c.1750G>T XP_011514175.1:p.Ala584Ser
XM_011515874.1:c.1741G>T XP_011514176.1:p.Ala581Ser
XM_011515875.1:c.1726G>T XP_011514177.1:p.Ala576Ser
XM_011515876.1:c.1807G>T XP_011514178.1:p.Ala603Ser
XM_011515877.1:c.1696G>T XP_011514179.1:p.Ala566Ser
XM_005250187.2:c.1756G>T XP_005250244.1:p.Ala586Ser
XM_005250188.2:c.1750G>T XP_005250245.1:p.Ala584Ser
XM_011515868.2:c.1807G>T XP_011514170.1:p.Ala603Ser
XM_011515871.2:c.1765G>T XP_011514173.1:p.Ala589Ser
XM_011515872.2:c.1753G>T XP_011514174.1:p.Ala585Ser
XM_011515873.2:c.1750G>T XP_011514175.1:p.Ala584Ser
XM_011515875.2:c.1726G>T XP_011514177.1:p.Ala576Ser
XM_011515876.2:c.1807G>T XP_011514178.1:p.Ala603Ser
XM_011515877.2:c.1696G>T XP_011514179.1:p.Ala566Ser
XM_017011813.1:c.1720G>T XP_016867302.1:p.Ala574Ser
XM_017011814.2:c.1708G>T XP_016867303.1:p.Ala570Ser
NM_000501.4:c.1792G>T MANE Select NP_000492.2:p.Ala598Ser
NM_001081752.3:c.1705G>T NP_001075221.1:p.Ala569Ser
NM_001081753.3:c.1750G>T NP_001075222.1:p.Ala584Ser
NM_001081754.3:c.1807G>T NP_001075223.1:p.Ala603Ser
NM_001081755.3:c.1735G>T NP_001075224.1:p.Ala579Ser
NM_001278912.2:c.1792G>T NP_001265841.1:p.Ala598Ser
NM_001278913.2:c.1549G>T NP_001265842.1:p.Ala517Ser
NM_001278914.2:c.1720G>T NP_001265843.1:p.Ala574Ser
NM_001278915.2:c.1810G>T NP_001265844.1:p.Ala604Ser
NM_001278916.2:c.1648G>T NP_001265845.1:p.Ala550Ser
NM_001278917.2:c.1762G>T NP_001265846.1:p.Ala588Ser
NM_001278918.2:c.1525G>T NP_001265847.1:p.Ala509Ser
NM_001278939.2:c.1978G>T NP_001265868.1:p.Ala660Ser