Canonical Allele Identifier: CA390746272

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88412045C>T (hg19) ; chr14:g.87945701C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945701C>T , CM000676.2:g.87945701C>T	GRCh38
NC_000014.8:g.88412045C>T , CM000676.1:g.88412045C>T	GRCh37
NC_000014.7:g.87481798C>T	NCBI36
NG_011853.2:g.52863G>A
NG_011853.3:g.52863G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1522G>A MANE Select	ENSP00000261304.2:p.Ala508Thr
ENST00000261304.6:c.1522G>A	ENSP00000261304.2:p.Ala508Thr
ENST00000393568.8:c.1453G>A	ENSP00000377198.4:p.Ala485Thr
ENST00000393569.6:c.1444G>A	ENSP00000377199.2:p.Ala482Thr
ENST00000544807.6:c.1354G>A	ENSP00000437513.2:p.Ala452Thr
ENST00000555000.5:c.889G>A	ENSP00000450472.1:p.Ala297Thr
ENST00000555179.1:c.206+2027G>A
ENST00000557316.5:c.*920G>A	ENSP00000452314.1:n.*920G>A
NM_000153.3:c.1522G>A	NP_000144.2:p.Ala508Thr
NM_001201401.1:c.1453G>A	NP_001188330.1:p.Ala485Thr
NM_001201402.1:c.1444G>A	NP_001188331.1:p.Ala482Thr
XM_011536618.1:c.1354G>A	XP_011534920.1:p.Ala452Thr
XM_011536618.2:c.1354G>A	XP_011534920.1:p.Ala452Thr
NM_000153.4:c.1522G>A MANE Select	NP_000144.2:p.Ala508Thr
NM_001201401.2:c.1453G>A	NP_001188330.1:p.Ala485Thr
NM_001201402.2:c.1444G>A	NP_001188331.1:p.Ala482Thr