Canonical Allele Identifier: CA2153386610

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986583G= , CM000676.2:g.87986583G=	GRCh38
NC_000014.8:g.88452927G= , CM000676.1:g.88452927G=	GRCh37
NC_000014.7:g.87522680G=	NCBI36
NG_011853.2:g.11981C=
NG_011853.3:g.11981C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.348C= MANE Select	ENSP00000261304.2:p.His116=
ENST00000261304.6:c.348C=	ENSP00000261304.2:p.His116=
ENST00000393568.8:c.279C=	ENSP00000377198.4:p.His93=
ENST00000393569.6:c.270C=	ENSP00000377199.2:p.His90=
ENST00000474294.6:n.338C=
ENST00000544807.6:c.180C=	ENSP00000437513.2:p.His60=
ENST00000554372.5:c.*97C=	ENSP00000451884.1:n.*97C=
ENST00000554916.5:n.227C=
ENST00000556261.5:n.49C=
ENST00000556879.5:c.408C=	ENSP00000452208.1:n.408C=
ENST00000557316.5:c.348C=	ENSP00000452314.1:p.His116=
ENST00000622264.4:c.338C=
NM_000153.3:c.348C=	NP_000144.2:p.His116=
NM_001201401.1:c.279C=	NP_001188330.1:p.His93=
NM_001201402.1:c.270C=	NP_001188331.1:p.His90=
XM_011536618.1:c.180C=	XP_011534920.1:p.His60=
XM_011536618.2:c.180C=	XP_011534920.1:p.His60=
NM_000153.4:c.348C= MANE Select	NP_000144.2:p.His116=
NM_001201401.2:c.279C=	NP_001188330.1:p.His93=
NM_001201402.2:c.270C=	NP_001188331.1:p.His90=