Canonical Allele Identifier: CA2153386619

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986600C= , CM000676.2:g.87986600C=	GRCh38
NC_000014.8:g.88452944C= , CM000676.1:g.88452944C=	GRCh37
NC_000014.7:g.87522697C=	NCBI36
NG_011853.2:g.11964G=
NG_011853.3:g.11964G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.331G= MANE Select	NP_000144.2:p.Gly111=
ENST00000261304.7:c.331G= MANE Select	ENSP00000261304.2:p.Gly111=
NM_000153.3:c.331G=	NP_000144.2:p.Gly111=
NM_001201401.1:c.262G=	NP_001188330.1:p.Gly88=
NM_001201401.2:c.262G=	NP_001188330.1:p.Gly88=
NM_001201402.1:c.253G=	NP_001188331.1:p.Gly85=
NM_001201402.2:c.253G=	NP_001188331.1:p.Gly85=
ENST00000261304.6:c.331G=	ENSP00000261304.2:p.Gly111=
ENST00000393568.8:c.262G=	ENSP00000377198.4:p.Gly88=
ENST00000393569.6:c.253G=	ENSP00000377199.2:p.Gly85=
ENST00000474294.6:n.321G=
ENST00000544807.6:c.163G=	ENSP00000437513.2:p.Gly55=
ENST00000554372.5:c.*80G=	ENSP00000451884.1:n.*80G=
ENST00000554916.5:n.210G=
ENST00000556261.5:n.32G=
ENST00000556879.5:c.391G=	ENSP00000452208.1:n.391G=
ENST00000557316.5:c.331G=	ENSP00000452314.1:p.Gly111=
ENST00000622264.4:c.321G=
XM_011536618.1:c.163G=	XP_011534920.1:p.Gly55=
XM_011536618.2:c.163G=	XP_011534920.1:p.Gly55=