Canonical Allele Identifier: CA390747580

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88431933A>C (hg19) ; chr14:g.87965589A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965589A>C , CM000676.2:g.87965589A>C	GRCh38
NC_000014.8:g.88431933A>C , CM000676.1:g.88431933A>C	GRCh37
NC_000014.7:g.87501686A>C	NCBI36
NG_011853.2:g.32975T>G
NG_011853.3:g.32975T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.949T>G MANE Select	ENSP00000261304.2:p.Leu317Val
ENST00000261304.6:c.949T>G	ENSP00000261304.2:p.Leu317Val
ENST00000393568.8:c.880T>G	ENSP00000377198.4:p.Leu294Val
ENST00000393569.6:c.871T>G	ENSP00000377199.2:p.Leu291Val
ENST00000474294.6:n.939T>G
ENST00000544807.6:c.781T>G	ENSP00000437513.2:p.Leu261Val
ENST00000555000.5:c.316T>G	ENSP00000450472.1:p.Leu106Val
ENST00000557316.5:c.*347T>G	ENSP00000452314.1:n.*347T>G
ENST00000557520.1:n.35T>G
ENST00000622264.4:c.939T>G
NM_000153.3:c.949T>G	NP_000144.2:p.Leu317Val
NM_001201401.1:c.880T>G	NP_001188330.1:p.Leu294Val
NM_001201402.1:c.871T>G	NP_001188331.1:p.Leu291Val
XM_011536618.1:c.781T>G	XP_011534920.1:p.Leu261Val
XM_011536618.2:c.781T>G	XP_011534920.1:p.Leu261Val
NM_000153.4:c.949T>G MANE Select	NP_000144.2:p.Leu317Val
NM_001201401.2:c.880T>G	NP_001188330.1:p.Leu294Val
NM_001201402.2:c.871T>G	NP_001188331.1:p.Leu291Val