Canonical Allele Identifier: CA390752491

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88452874A>T (hg19) ; chr14:g.87986530A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986530A>T , CM000676.2:g.87986530A>T	GRCh38
NC_000014.8:g.88452874A>T , CM000676.1:g.88452874A>T	GRCh37
NC_000014.7:g.87522627A>T	NCBI36
NG_011853.2:g.12034T>A
NG_011853.3:g.12034T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.401T>A MANE Select	ENSP00000261304.2:p.Met134Lys
ENST00000261304.6:c.401T>A	ENSP00000261304.2:p.Met134Lys
ENST00000393568.8:c.332T>A	ENSP00000377198.4:p.Met111Lys
ENST00000393569.6:c.323T>A	ENSP00000377199.2:p.Met108Lys
ENST00000474294.6:n.391T>A
ENST00000544807.6:c.233T>A	ENSP00000437513.2:p.Met78Lys
ENST00000554372.5:c.*150T>A	ENSP00000451884.1:n.*150T>A
ENST00000554916.5:n.280T>A
ENST00000556261.5:n.102T>A
ENST00000556879.5:c.461T>A	ENSP00000452208.1:n.461T>A
ENST00000557316.5:c.401T>A	ENSP00000452314.1:p.Met134Lys
ENST00000622264.4:c.391T>A
NM_000153.3:c.401T>A	NP_000144.2:p.Met134Lys
NM_001201401.1:c.332T>A	NP_001188330.1:p.Met111Lys
NM_001201402.1:c.323T>A	NP_001188331.1:p.Met108Lys
XM_011536618.1:c.233T>A	XP_011534920.1:p.Met78Lys
XM_011536618.2:c.233T>A	XP_011534920.1:p.Met78Lys
NM_000153.4:c.401T>A MANE Select	NP_000144.2:p.Met134Lys
NM_001201401.2:c.332T>A	NP_001188330.1:p.Met111Lys
NM_001201402.2:c.323T>A	NP_001188331.1:p.Met108Lys