Canonical Allele Identifier: CA2153386595

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986552G= , CM000676.2:g.87986552G=	GRCh38
NC_000014.8:g.88452896G= , CM000676.1:g.88452896G=	GRCh37
NC_000014.7:g.87522649G=	NCBI36
NG_011853.2:g.12012C=
NG_011853.3:g.12012C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.379C= MANE Select	NP_000144.2:p.Arg127=
ENST00000261304.7:c.379C= MANE Select	ENSP00000261304.2:p.Arg127=
NM_000153.3:c.379C=	NP_000144.2:p.Arg127=
NM_001201401.1:c.310C=	NP_001188330.1:p.Arg104=
NM_001201401.2:c.310C=	NP_001188330.1:p.Arg104=
NM_001201402.1:c.301C=	NP_001188331.1:p.Arg101=
NM_001201402.2:c.301C=	NP_001188331.1:p.Arg101=
ENST00000261304.6:c.379C=	ENSP00000261304.2:p.Arg127=
ENST00000393568.8:c.310C=	ENSP00000377198.4:p.Arg104=
ENST00000393569.6:c.301C=	ENSP00000377199.2:p.Arg101=
ENST00000474294.6:n.369C=
ENST00000544807.6:c.211C=	ENSP00000437513.2:p.Arg71=
ENST00000554372.5:c.*128C=	ENSP00000451884.1:n.*128C=
ENST00000554916.5:n.258C=
ENST00000556261.5:n.80C=
ENST00000556879.5:c.439C=	ENSP00000452208.1:n.439C=
ENST00000557316.5:c.379C=	ENSP00000452314.1:p.Arg127=
ENST00000622264.4:c.369C=
XM_011536618.1:c.211C=	XP_011534920.1:p.Arg71=
XM_011536618.2:c.211C=	XP_011534920.1:p.Arg71=