Canonical Allele Identifier: CA2153353359

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941433A= , CM000676.2:g.87941433A=	GRCh38
NC_000014.8:g.88407777A= , CM000676.1:g.88407777A=	GRCh37
NC_000014.7:g.87477530A=	NCBI36
NG_011853.2:g.57131T=
NG_011853.3:g.57131T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1796T= MANE Select	ENSP00000261304.2:p.Ile599=
ENST00000261304.6:c.1796T=	ENSP00000261304.2:p.Ile599=
ENST00000393568.8:c.1727T=	ENSP00000377198.4:p.Ile576=
ENST00000393569.6:c.1718T=	ENSP00000377199.2:p.Ile573=
ENST00000544807.6:c.1628T=	ENSP00000437513.2:p.Ile543=
ENST00000555000.5:c.1163T=	ENSP00000450472.1:p.Ile388=
ENST00000555179.1:c.332T=
ENST00000557316.5:c.*1194T=	ENSP00000452314.1:n.*1194T=
NM_000153.3:c.1796T=	NP_000144.2:p.Ile599=
NM_001201401.1:c.1727T=	NP_001188330.1:p.Ile576=
NM_001201402.1:c.1718T=	NP_001188331.1:p.Ile573=
XM_011536618.1:c.1628T=	XP_011534920.1:p.Ile543=
XM_011536618.2:c.1628T=	XP_011534920.1:p.Ile543=
NM_000153.4:c.1796T= MANE Select	NP_000144.2:p.Ile599=
NM_001201401.2:c.1727T=	NP_001188330.1:p.Ile576=
NM_001201402.2:c.1718T=	NP_001188331.1:p.Ile573=