Canonical Allele Identifier: CA390747408

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88431854A>T (hg19) ; chr14:g.87965510A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965510A>T , CM000676.2:g.87965510A>T	GRCh38
NC_000014.8:g.88431854A>T , CM000676.1:g.88431854A>T	GRCh37
NC_000014.7:g.87501607A>T	NCBI36
NG_011853.2:g.33054T>A
NG_011853.3:g.33054T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1028T>A MANE Select	ENSP00000261304.2:p.Val343Glu
ENST00000261304.6:c.1028T>A	ENSP00000261304.2:p.Val343Glu
ENST00000393568.8:c.959T>A	ENSP00000377198.4:p.Val320Glu
ENST00000393569.6:c.950T>A	ENSP00000377199.2:p.Val317Glu
ENST00000474294.6:n.1018T>A
ENST00000544807.6:c.860T>A	ENSP00000437513.2:p.Val287Glu
ENST00000555000.5:c.395T>A	ENSP00000450472.1:p.Val132Glu
ENST00000557316.5:c.*426T>A	ENSP00000452314.1:n.*426T>A
ENST00000557520.1:n.114T>A
ENST00000622264.4:c.1018T>A
NM_000153.3:c.1028T>A	NP_000144.2:p.Val343Glu
NM_001201401.1:c.959T>A	NP_001188330.1:p.Val320Glu
NM_001201402.1:c.950T>A	NP_001188331.1:p.Val317Glu
XM_011536618.1:c.860T>A	XP_011534920.1:p.Val287Glu
XM_011536618.2:c.860T>A	XP_011534920.1:p.Val287Glu
NM_000153.4:c.1028T>A MANE Select	NP_000144.2:p.Val343Glu
NM_001201401.2:c.959T>A	NP_001188330.1:p.Val320Glu
NM_001201402.2:c.950T>A	NP_001188331.1:p.Val317Glu