Canonical Allele Identifier: CA390747681

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88434679G>C (hg19) ; chr14:g.87968335G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968335G>C , CM000676.2:g.87968335G>C	GRCh38
NC_000014.8:g.88434679G>C , CM000676.1:g.88434679G>C	GRCh37
NC_000014.7:g.87504432G>C	NCBI36
NG_011853.2:g.30229C>G
NG_011853.3:g.30229C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.908C>G MANE Select	ENSP00000261304.2:p.Ser303Cys
ENST00000261304.6:c.908C>G	ENSP00000261304.2:p.Ser303Cys
ENST00000393568.8:c.839C>G	ENSP00000377198.4:p.Ser280Cys
ENST00000393569.6:c.830C>G	ENSP00000377199.2:p.Ser277Cys
ENST00000474294.6:n.898C>G
ENST00000544807.6:c.740C>G	ENSP00000437513.2:p.Ser247Cys
ENST00000555000.5:c.275C>G	ENSP00000450472.1:p.Ser92Cys
ENST00000557316.5:c.*306C>G	ENSP00000452314.1:n.*306C>G
ENST00000622264.4:c.898C>G
NM_000153.3:c.908C>G	NP_000144.2:p.Ser303Cys
NM_001201401.1:c.839C>G	NP_001188330.1:p.Ser280Cys
NM_001201402.1:c.830C>G	NP_001188331.1:p.Ser277Cys
XM_011536618.1:c.740C>G	XP_011534920.1:p.Ser247Cys
XM_011536618.2:c.740C>G	XP_011534920.1:p.Ser247Cys
NM_000153.4:c.908C>G MANE Select	NP_000144.2:p.Ser303Cys
NM_001201401.2:c.839C>G	NP_001188330.1:p.Ser280Cys
NM_001201402.2:c.830C>G	NP_001188331.1:p.Ser277Cys