Canonical Allele Identifier: CA390746611

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88414189G>C (hg19) ; chr14:g.87947845G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947845G>C , CM000676.2:g.87947845G>C	GRCh38
NC_000014.8:g.88414189G>C , CM000676.1:g.88414189G>C	GRCh37
NC_000014.7:g.87483942G>C	NCBI36
NG_011853.2:g.50719C>G
NG_011853.3:g.50719C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1372C>G MANE Select	ENSP00000261304.2:p.Leu458Val
ENST00000261304.6:c.1372C>G	ENSP00000261304.2:p.Leu458Val
ENST00000393568.8:c.1303C>G	ENSP00000377198.4:p.Leu435Val
ENST00000393569.6:c.1294C>G	ENSP00000377199.2:p.Leu432Val
ENST00000544807.6:c.1204C>G	ENSP00000437513.2:p.Leu402Val
ENST00000555000.5:c.739C>G	ENSP00000450472.1:p.Leu247Val
ENST00000555179.1:c.89C>G
ENST00000557316.5:c.*770C>G	ENSP00000452314.1:n.*770C>G
NM_000153.3:c.1372C>G	NP_000144.2:p.Leu458Val
NM_001201401.1:c.1303C>G	NP_001188330.1:p.Leu435Val
NM_001201402.1:c.1294C>G	NP_001188331.1:p.Leu432Val
XM_011536618.1:c.1204C>G	XP_011534920.1:p.Leu402Val
XM_011536618.2:c.1204C>G	XP_011534920.1:p.Leu402Val
NM_000153.4:c.1372C>G MANE Select	NP_000144.2:p.Leu458Val
NM_001201401.2:c.1303C>G	NP_001188330.1:p.Leu435Val
NM_001201402.2:c.1294C>G	NP_001188331.1:p.Leu432Val