Canonical Allele Identifier: CA487366241

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442737A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976393A>T , CM000676.2:g.87976393A>T	GRCh38
NC_000014.8:g.88442737A>T , CM000676.1:g.88442737A>T	GRCh37
NC_000014.7:g.87512490A>T	NCBI36
NG_011853.2:g.22171T>A
NG_011853.3:g.22171T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.717T>A MANE Select	ENSP00000261304.2:p.Leu239=
ENST00000261304.6:c.717T>A	ENSP00000261304.2:p.Leu239=
ENST00000393568.8:c.648T>A	ENSP00000377198.4:p.Leu216=
ENST00000393569.6:c.639T>A	ENSP00000377199.2:p.Leu213=
ENST00000474294.6:n.707T>A
ENST00000477716.3:n.472T>A
ENST00000544807.6:c.549T>A	ENSP00000437513.2:p.Leu183=
ENST00000554916.5:n.596T>A
ENST00000555000.5:c.84T>A	ENSP00000450472.1:p.Leu28=
ENST00000557316.5:c.*115T>A	ENSP00000452314.1:n.*115T>A
ENST00000622264.4:c.707T>A
NM_000153.3:c.717T>A	NP_000144.2:p.Leu239=
NM_001201401.1:c.648T>A	NP_001188330.1:p.Leu216=
NM_001201402.1:c.639T>A	NP_001188331.1:p.Leu213=
XM_011536618.1:c.549T>A	XP_011534920.1:p.Leu183=
XM_011536618.2:c.549T>A	XP_011534920.1:p.Leu183=
NM_000153.4:c.717T>A MANE Select	NP_000144.2:p.Leu239=
NM_001201401.2:c.648T>A	NP_001188330.1:p.Leu216=
NM_001201402.2:c.639T>A	NP_001188331.1:p.Leu213=