Canonical Allele Identifier: CA2153381785

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976430T= , CM000676.2:g.87976430T=	GRCh38
NC_000014.8:g.88442774T= , CM000676.1:g.88442774T=	GRCh37
NC_000014.7:g.87512527T=	NCBI36
NG_011853.2:g.22134A=
NG_011853.3:g.22134A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.680A= MANE Select	ENSP00000261304.2:p.Asp227=
ENST00000261304.6:c.680A=	ENSP00000261304.2:p.Asp227=
ENST00000393568.8:c.611A=	ENSP00000377198.4:p.Asp204=
ENST00000393569.6:c.602A=	ENSP00000377199.2:p.Asp201=
ENST00000474294.6:n.670A=
ENST00000477716.3:n.435A=
ENST00000544807.6:c.512A=	ENSP00000437513.2:p.Asp171=
ENST00000554916.5:n.559A=
ENST00000555000.5:c.47A=	ENSP00000450472.1:p.Asp16=
ENST00000557316.5:c.*78A=	ENSP00000452314.1:n.*78A=
ENST00000622264.4:c.670A=
NM_000153.3:c.680A=	NP_000144.2:p.Asp227=
NM_001201401.1:c.611A=	NP_001188330.1:p.Asp204=
NM_001201402.1:c.602A=	NP_001188331.1:p.Asp201=
XM_011536618.1:c.512A=	XP_011534920.1:p.Asp171=
XM_011536618.2:c.512A=	XP_011534920.1:p.Asp171=
NM_000153.4:c.680A= MANE Select	NP_000144.2:p.Asp227=
NM_001201401.2:c.611A=	NP_001188330.1:p.Asp204=
NM_001201402.2:c.602A=	NP_001188331.1:p.Asp201=