Canonical Allele Identifier: CA390749345

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442727G>C (hg19) ; chr14:g.87976383G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976383G>C , CM000676.2:g.87976383G>C	GRCh38
NC_000014.8:g.88442727G>C , CM000676.1:g.88442727G>C	GRCh37
NC_000014.7:g.87512480G>C	NCBI36
NG_011853.2:g.22181C>G
NG_011853.3:g.22181C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.727C>G MANE Select	ENSP00000261304.2:p.Leu243Val
ENST00000261304.6:c.727C>G	ENSP00000261304.2:p.Leu243Val
ENST00000393568.8:c.658C>G	ENSP00000377198.4:p.Leu220Val
ENST00000393569.6:c.649C>G	ENSP00000377199.2:p.Leu217Val
ENST00000474294.6:n.717C>G
ENST00000477716.3:n.482C>G
ENST00000544807.6:c.559C>G	ENSP00000437513.2:p.Leu187Val
ENST00000554916.5:n.606C>G
ENST00000555000.5:c.94C>G	ENSP00000450472.1:p.Leu32Val
ENST00000557316.5:c.*125C>G	ENSP00000452314.1:n.*125C>G
ENST00000622264.4:c.717C>G
NM_000153.3:c.727C>G	NP_000144.2:p.Leu243Val
NM_001201401.1:c.658C>G	NP_001188330.1:p.Leu220Val
NM_001201402.1:c.649C>G	NP_001188331.1:p.Leu217Val
XM_011536618.1:c.559C>G	XP_011534920.1:p.Leu187Val
XM_011536618.2:c.559C>G	XP_011534920.1:p.Leu187Val
NM_000153.4:c.727C>G MANE Select	NP_000144.2:p.Leu243Val
NM_001201401.2:c.658C>G	NP_001188330.1:p.Leu220Val
NM_001201402.2:c.649C>G	NP_001188331.1:p.Leu217Val