Canonical Allele Identifier: CA390771706

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87992999C>G , CM000676.2:g.87992999C>G	GRCh38
NC_000014.8:g.88459343C>G , CM000676.1:g.88459343C>G	GRCh37
NC_000014.7:g.87529096C>G	NCBI36
NG_011853.2:g.5565G>C
NG_011853.3:g.5565G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.166G>C MANE Select	NP_000144.2:p.Asp56His
ENST00000261304.7:c.166G>C MANE Select	ENSP00000261304.2:p.Asp56His
NM_000153.3:c.166G>C	NP_000144.2:p.Asp56His
NM_001201401.1:c.166G>C	NP_001188330.1:p.Asp56His
NM_001201401.2:c.166G>C	NP_001188330.1:p.Asp56His
NM_001201402.1:c.117+384G>C	NP_001188331.1:n.117+384G>C
NM_001201402.2:c.117+384G>C	NP_001188331.1:n.117+384G>C
ENST00000261304.6:c.166G>C	ENSP00000261304.2:p.Asp56His
ENST00000393568.8:c.166G>C	ENSP00000377198.4:p.Asp56His
ENST00000393569.6:c.117+384G>C	ENSP00000377199.2:n.117+384G>C
ENST00000474294.6:n.156G>C
ENST00000554372.5:c.166G>C	ENSP00000451884.1:p.Asp56His
ENST00000556879.5:c.124G>C	ENSP00000452208.1:p.Asp42His
ENST00000557316.5:c.166G>C	ENSP00000452314.1:p.Asp56His
ENST00000622264.4:c.156G>C