Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863902C>T , CM000663.2:g.5863902C>T	GRCh38
NC_000001.10:g.5923962C>T , CM000663.1:g.5923962C>T	GRCh37
NC_000001.9:g.5846549C>T	NCBI36
NG_011724.2:g.133570G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4128G>A MANE Select	ENSP00000367398.4:p.Glu1376=
ENST00000378156.8:c.4128G>A	ENSP00000367398.4:p.Glu1376=
ENST00000378161.5:n.3279G>A
ENST00000378169.7:c.*3029G>A	ENSP00000367411.3:n.*3029G>A
ENST00000460696.1:n.2876G>A
ENST00000478423.6:n.3860G>A
ENST00000489180.6:c.*1939G>A	ENSP00000423747.1:n.*1939G>A
NM_001291593.1:c.2589G>A	NP_001278522.1:p.Glu863=
NM_001291594.1:c.2592G>A	NP_001278523.1:p.Glu864=
NM_015102.4:c.4128G>A	NP_055917.1:p.Glu1376=
NR_111987.1:n.4943G>A
XM_006710563.2:c.4128G>A	XP_006710626.1:p.Glu1376=
XM_006710565.2:c.4128G>A	XP_006710628.1:p.Glu1376=
XM_011541213.1:c.4125G>A	XP_011539515.1:p.Glu1375=
XM_011541214.1:c.4086G>A	XP_011539516.1:p.Glu1362=
XM_011541215.1:c.4017G>A	XP_011539517.1:p.Glu1339=
XM_011541216.1:c.4128G>A	XP_011539518.1:p.Glu1376=
XM_011541217.1:c.4128G>A	XP_011539519.1:p.Glu1376=
XM_011541218.1:c.4128G>A	XP_011539520.1:p.Glu1376=
XM_011541219.1:c.4074G>A	XP_011539521.1:p.Glu1358=
XM_006710563.3:c.4128G>A	XP_006710626.1:p.Glu1376=
XM_011541216.2:c.4128G>A	XP_011539518.1:p.Glu1376=
XM_011541217.2:c.4128G>A	XP_011539519.1:p.Glu1376=
XM_011541218.2:c.4128G>A	XP_011539520.1:p.Glu1376=
XM_017000996.1:c.4083G>A	XP_016856485.1:p.Glu1361=
XM_017000997.1:c.4128G>A	XP_016856486.1:p.Glu1376=
XM_017000999.1:c.3600G>A	XP_016856488.1:p.Glu1200=
XM_017001000.2:c.3600G>A	XP_016856489.1:p.Glu1200=
XM_017001001.1:c.3330G>A	XP_016856490.1:p.Glu1110=
XM_017001003.1:c.2589G>A	XP_016856492.1:p.Glu863=
XR_001737114.1:n.3994G>A
XR_001737115.1:n.3979G>A
NM_015102.5:c.4128G>A MANE Select	NP_055917.1:p.Glu1376=
NM_001291593.2:c.2589G>A	NP_001278522.1:p.Glu863=
NM_001291594.2:c.2592G>A	NP_001278523.1:p.Glu864=
NR_111987.2:n.4895G>A

Linked Data

Genomic Alleles

Transcript Alleles