Canonical Allele Identifier: CA390746439

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88414105A>C (hg19) ; chr14:g.87947761A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947761A>C , CM000676.2:g.87947761A>C	GRCh38
NC_000014.8:g.88414105A>C , CM000676.1:g.88414105A>C	GRCh37
NC_000014.7:g.87483858A>C	NCBI36
NG_011853.2:g.50803T>G
NG_011853.3:g.50803T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1456T>G MANE Select	ENSP00000261304.2:p.Phe486Val
ENST00000261304.6:c.1456T>G	ENSP00000261304.2:p.Phe486Val
ENST00000393568.8:c.1387T>G	ENSP00000377198.4:p.Phe463Val
ENST00000393569.6:c.1378T>G	ENSP00000377199.2:p.Phe460Val
ENST00000544807.6:c.1288T>G	ENSP00000437513.2:p.Phe430Val
ENST00000555000.5:c.823T>G	ENSP00000450472.1:p.Phe275Val
ENST00000555179.1:c.173T>G
ENST00000557316.5:c.*854T>G	ENSP00000452314.1:n.*854T>G
NM_000153.3:c.1456T>G	NP_000144.2:p.Phe486Val
NM_001201401.1:c.1387T>G	NP_001188330.1:p.Phe463Val
NM_001201402.1:c.1378T>G	NP_001188331.1:p.Phe460Val
XM_011536618.1:c.1288T>G	XP_011534920.1:p.Phe430Val
XM_011536618.2:c.1288T>G	XP_011534920.1:p.Phe430Val
NM_000153.4:c.1456T>G MANE Select	NP_000144.2:p.Phe486Val
NM_001201401.2:c.1387T>G	NP_001188330.1:p.Phe463Val
NM_001201402.2:c.1378T>G	NP_001188331.1:p.Phe460Val