Canonical Allele Identifier: CA2153345187

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965510A= , CM000676.2:g.87965510A=	GRCh38
NC_000014.8:g.88431854A= , CM000676.1:g.88431854A=	GRCh37
NC_000014.7:g.87501607A=	NCBI36
NG_011853.2:g.33054T=
NG_011853.3:g.33054T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1028T= MANE Select	ENSP00000261304.2:p.Val343=
ENST00000261304.6:c.1028T=	ENSP00000261304.2:p.Val343=
ENST00000393568.8:c.959T=	ENSP00000377198.4:p.Val320=
ENST00000393569.6:c.950T=	ENSP00000377199.2:p.Val317=
ENST00000474294.6:n.1018T=
ENST00000544807.6:c.860T=	ENSP00000437513.2:p.Val287=
ENST00000555000.5:c.395T=	ENSP00000450472.1:p.Val132=
ENST00000557316.5:c.*426T=	ENSP00000452314.1:n.*426T=
ENST00000557520.1:n.114T=
ENST00000622264.4:c.1018T=
NM_000153.3:c.1028T=	NP_000144.2:p.Val343=
NM_001201401.1:c.959T=	NP_001188330.1:p.Val320=
NM_001201402.1:c.950T=	NP_001188331.1:p.Val317=
XM_011536618.1:c.860T=	XP_011534920.1:p.Val287=
XM_011536618.2:c.860T=	XP_011534920.1:p.Val287=
NM_000153.4:c.1028T= MANE Select	NP_000144.2:p.Val343=
NM_001201401.2:c.959T=	NP_001188330.1:p.Val320=
NM_001201402.2:c.950T=	NP_001188331.1:p.Val317=