Canonical Allele Identifier: CA7297521

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87993116T>C , CM000676.2:g.87993116T>C	GRCh38
NC_000014.8:g.88459460T>C , CM000676.1:g.88459460T>C	GRCh37
NC_000014.7:g.87529213T>C	NCBI36
NG_011853.2:g.5448A>G
NG_011853.3:g.5448A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.49A>G MANE Select	NP_000144.2:p.Met17Val
ENST00000261304.7:c.49A>G MANE Select	ENSP00000261304.2:p.Met17Val
NM_000153.3:c.49A>G	NP_000144.2:p.Met17Val
NM_001201401.1:c.49A>G	NP_001188330.1:p.Met17Val
NM_001201401.2:c.49A>G	NP_001188330.1:p.Met17Val
NM_001201402.1:c.117+267A>G	NP_001188331.1:n.117+267A>G
NM_001201402.2:c.117+267A>G	NP_001188331.1:n.117+267A>G
ENST00000261304.6:c.49A>G	ENSP00000261304.2:p.Met17Val
ENST00000393568.8:c.49A>G	ENSP00000377198.4:p.Met17Val
ENST00000393569.6:c.117+267A>G	ENSP00000377199.2:n.117+267A>G
ENST00000474294.6:n.39A>G
ENST00000554372.5:c.49A>G	ENSP00000451884.1:p.Met17Val
ENST00000556879.5:c.7A>G	ENSP00000452208.1:p.Met3Val
ENST00000557316.5:c.49A>G	ENSP00000452314.1:p.Met17Val
ENST00000622264.4:c.39A>G