Canonical Allele Identifier: CA390750831

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88448574C>G (hg19) ; chr14:g.87982230C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982230C>G , CM000676.2:g.87982230C>G	GRCh38
NC_000014.8:g.88448574C>G , CM000676.1:g.88448574C>G	GRCh37
NC_000014.7:g.87518327C>G	NCBI36
NG_011853.2:g.16334G>C
NG_011853.3:g.16334G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.596G>C MANE Select	ENSP00000261304.2:p.Arg199Thr
ENST00000261304.6:c.596G>C	ENSP00000261304.2:p.Arg199Thr
ENST00000393568.8:c.527G>C	ENSP00000377198.4:p.Arg176Thr
ENST00000393569.6:c.518G>C	ENSP00000377199.2:p.Arg173Thr
ENST00000474294.6:n.586G>C
ENST00000544807.6:c.428G>C	ENSP00000437513.2:p.Arg143Thr
ENST00000554372.5:c.*345G>C	ENSP00000451884.1:n.*345G>C
ENST00000554916.5:n.475G>C
ENST00000556261.5:n.297G>C
ENST00000557316.5:c.596G>C	ENSP00000452314.1:p.Arg199Thr
ENST00000622264.4:c.586G>C
NM_000153.3:c.596G>C	NP_000144.2:p.Arg199Thr
NM_001201401.1:c.527G>C	NP_001188330.1:p.Arg176Thr
NM_001201402.1:c.518G>C	NP_001188331.1:p.Arg173Thr
XM_011536618.1:c.428G>C	XP_011534920.1:p.Arg143Thr
XM_011536618.2:c.428G>C	XP_011534920.1:p.Arg143Thr
NM_000153.4:c.596G>C MANE Select	NP_000144.2:p.Arg199Thr
NM_001201401.2:c.527G>C	NP_001188330.1:p.Arg176Thr
NM_001201402.2:c.518G>C	NP_001188331.1:p.Arg173Thr