Canonical Allele Identifier: CA390749395

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442736C>G (hg19) ; chr14:g.87976392C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976392C>G , CM000676.2:g.87976392C>G	GRCh38
NC_000014.8:g.88442736C>G , CM000676.1:g.88442736C>G	GRCh37
NC_000014.7:g.87512489C>G	NCBI36
NG_011853.2:g.22172G>C
NG_011853.3:g.22172G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.718G>C MANE Select	ENSP00000261304.2:p.Asp240His
ENST00000261304.6:c.718G>C	ENSP00000261304.2:p.Asp240His
ENST00000393568.8:c.649G>C	ENSP00000377198.4:p.Asp217His
ENST00000393569.6:c.640G>C	ENSP00000377199.2:p.Asp214His
ENST00000474294.6:n.708G>C
ENST00000477716.3:n.473G>C
ENST00000544807.6:c.550G>C	ENSP00000437513.2:p.Asp184His
ENST00000554916.5:n.597G>C
ENST00000555000.5:c.85G>C	ENSP00000450472.1:p.Asp29His
ENST00000557316.5:c.*116G>C	ENSP00000452314.1:n.*116G>C
ENST00000622264.4:c.708G>C
NM_000153.3:c.718G>C	NP_000144.2:p.Asp240His
NM_001201401.1:c.649G>C	NP_001188330.1:p.Asp217His
NM_001201402.1:c.640G>C	NP_001188331.1:p.Asp214His
XM_011536618.1:c.550G>C	XP_011534920.1:p.Asp184His
XM_011536618.2:c.550G>C	XP_011534920.1:p.Asp184His
NM_000153.4:c.718G>C MANE Select	NP_000144.2:p.Asp240His
NM_001201401.2:c.649G>C	NP_001188330.1:p.Asp217His
NM_001201402.2:c.640G>C	NP_001188331.1:p.Asp214His