Canonical Allele Identifier: CA3206973077

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87992992A= , CM000676.2:g.87992992A=	GRCh38
NC_000014.8:g.88459336A= , CM000676.1:g.88459336A=	GRCh37
NC_000014.7:g.87529089A=	NCBI36
NG_011853.2:g.5572T=
NG_011853.3:g.5572T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.173T= MANE Select	ENSP00000261304.2:p.Ile58=
ENST00000261304.6:c.173T=	ENSP00000261304.2:p.Ile58=
ENST00000393568.8:c.173T=	ENSP00000377198.4:p.Ile58=
ENST00000393569.6:c.117+391T=	ENSP00000377199.2:n.117+391T=
ENST00000474294.6:n.163T=
ENST00000554372.5:c.173T=	ENSP00000451884.1:p.Ile58=
ENST00000556879.5:c.131T=	ENSP00000452208.1:p.Ile44=
ENST00000557316.5:c.173T=	ENSP00000452314.1:p.Ile58=
ENST00000622264.4:c.163T=
NM_000153.3:c.173T=	NP_000144.2:p.Ile58=
NM_001201401.1:c.173T=	NP_001188330.1:p.Ile58=
NM_001201402.1:c.117+391T=	NP_001188331.1:n.117+391T=
NM_000153.4:c.173T= MANE Select	NP_000144.2:p.Ile58=
NM_001201401.2:c.173T=	NP_001188330.1:p.Ile58=
NM_001201402.2:c.117+391T=	NP_001188331.1:n.117+391T=