Canonical Allele Identifier: CA390749338

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442726A>C (hg19) ; chr14:g.87976382A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976382A>C , CM000676.2:g.87976382A>C	GRCh38
NC_000014.8:g.88442726A>C , CM000676.1:g.88442726A>C	GRCh37
NC_000014.7:g.87512479A>C	NCBI36
NG_011853.2:g.22182T>G
NG_011853.3:g.22182T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.728T>G MANE Select	ENSP00000261304.2:p.Leu243Arg
ENST00000261304.6:c.728T>G	ENSP00000261304.2:p.Leu243Arg
ENST00000393568.8:c.659T>G	ENSP00000377198.4:p.Leu220Arg
ENST00000393569.6:c.650T>G	ENSP00000377199.2:p.Leu217Arg
ENST00000474294.6:n.718T>G
ENST00000477716.3:n.483T>G
ENST00000544807.6:c.560T>G	ENSP00000437513.2:p.Leu187Arg
ENST00000554916.5:n.607T>G
ENST00000555000.5:c.95T>G	ENSP00000450472.1:p.Leu32Arg
ENST00000557316.5:c.*126T>G	ENSP00000452314.1:n.*126T>G
ENST00000622264.4:c.718T>G
NM_000153.3:c.728T>G	NP_000144.2:p.Leu243Arg
NM_001201401.1:c.659T>G	NP_001188330.1:p.Leu220Arg
NM_001201402.1:c.650T>G	NP_001188331.1:p.Leu217Arg
XM_011536618.1:c.560T>G	XP_011534920.1:p.Leu187Arg
XM_011536618.2:c.560T>G	XP_011534920.1:p.Leu187Arg
NM_000153.4:c.728T>G MANE Select	NP_000144.2:p.Leu243Arg
NM_001201401.2:c.659T>G	NP_001188330.1:p.Leu220Arg
NM_001201402.2:c.650T>G	NP_001188331.1:p.Leu217Arg