Canonical Allele Identifier: CA2153397410

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87993036G= , CM000676.2:g.87993036G=	GRCh38
NC_000014.8:g.88459380G= , CM000676.1:g.88459380G=	GRCh37
NC_000014.7:g.87529133G=	NCBI36
NG_011853.2:g.5528C=
NG_011853.3:g.5528C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.129C= MANE Select	NP_000144.2:p.Tyr43=
ENST00000261304.7:c.129C= MANE Select	ENSP00000261304.2:p.Tyr43=
NM_000153.3:c.129C=	NP_000144.2:p.Tyr43=
NM_001201401.1:c.129C=	NP_001188330.1:p.Tyr43=
NM_001201401.2:c.129C=	NP_001188330.1:p.Tyr43=
NM_001201402.1:c.117+347C=	NP_001188331.1:n.117+347C=
NM_001201402.2:c.117+347C=	NP_001188331.1:n.117+347C=
ENST00000261304.6:c.129C=	ENSP00000261304.2:p.Tyr43=
ENST00000393568.8:c.129C=	ENSP00000377198.4:p.Tyr43=
ENST00000393569.6:c.117+347C=	ENSP00000377199.2:n.117+347C=
ENST00000474294.6:n.119C=
ENST00000554372.5:c.129C=	ENSP00000451884.1:p.Tyr43=
ENST00000556879.5:c.87C=	ENSP00000452208.1:p.Tyr29=
ENST00000557316.5:c.129C=	ENSP00000452314.1:p.Tyr43=
ENST00000622264.4:c.119C=