Canonical Allele Identifier: CA390752813

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88452936C>G (hg19) ; chr14:g.87986592C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986592C>G , CM000676.2:g.87986592C>G	GRCh38
NC_000014.8:g.88452936C>G , CM000676.1:g.88452936C>G	GRCh37
NC_000014.7:g.87522689C>G	NCBI36
NG_011853.2:g.11972G>C
NG_011853.3:g.11972G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.339G>C MANE Select	ENSP00000261304.2:p.Glu113Asp
ENST00000261304.6:c.339G>C	ENSP00000261304.2:p.Glu113Asp
ENST00000393568.8:c.270G>C	ENSP00000377198.4:p.Glu90Asp
ENST00000393569.6:c.261G>C	ENSP00000377199.2:p.Glu87Asp
ENST00000474294.6:n.329G>C
ENST00000544807.6:c.171G>C	ENSP00000437513.2:p.Glu57Asp
ENST00000554372.5:c.*88G>C	ENSP00000451884.1:n.*88G>C
ENST00000554916.5:n.218G>C
ENST00000556261.5:n.40G>C
ENST00000556879.5:c.399G>C	ENSP00000452208.1:n.399G>C
ENST00000557316.5:c.339G>C	ENSP00000452314.1:p.Glu113Asp
ENST00000622264.4:c.329G>C
NM_000153.3:c.339G>C	NP_000144.2:p.Glu113Asp
NM_001201401.1:c.270G>C	NP_001188330.1:p.Glu90Asp
NM_001201402.1:c.261G>C	NP_001188331.1:p.Glu87Asp
XM_011536618.1:c.171G>C	XP_011534920.1:p.Glu57Asp
XM_011536618.2:c.171G>C	XP_011534920.1:p.Glu57Asp
NM_000153.4:c.339G>C MANE Select	NP_000144.2:p.Glu113Asp
NM_001201401.2:c.270G>C	NP_001188330.1:p.Glu90Asp
NM_001201402.2:c.261G>C	NP_001188331.1:p.Glu87Asp