Canonical Allele Identifier: CA390749387

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442735T>A (hg19) ; chr14:g.87976391T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976391T>A , CM000676.2:g.87976391T>A	GRCh38
NC_000014.8:g.88442735T>A , CM000676.1:g.88442735T>A	GRCh37
NC_000014.7:g.87512488T>A	NCBI36
NG_011853.2:g.22173A>T
NG_011853.3:g.22173A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.719A>T MANE Select	ENSP00000261304.2:p.Asp240Val
ENST00000261304.6:c.719A>T	ENSP00000261304.2:p.Asp240Val
ENST00000393568.8:c.650A>T	ENSP00000377198.4:p.Asp217Val
ENST00000393569.6:c.641A>T	ENSP00000377199.2:p.Asp214Val
ENST00000474294.6:n.709A>T
ENST00000477716.3:n.474A>T
ENST00000544807.6:c.551A>T	ENSP00000437513.2:p.Asp184Val
ENST00000554916.5:n.598A>T
ENST00000555000.5:c.86A>T	ENSP00000450472.1:p.Asp29Val
ENST00000557316.5:c.*117A>T	ENSP00000452314.1:n.*117A>T
ENST00000622264.4:c.709A>T
NM_000153.3:c.719A>T	NP_000144.2:p.Asp240Val
NM_001201401.1:c.650A>T	NP_001188330.1:p.Asp217Val
NM_001201402.1:c.641A>T	NP_001188331.1:p.Asp214Val
XM_011536618.1:c.551A>T	XP_011534920.1:p.Asp184Val
XM_011536618.2:c.551A>T	XP_011534920.1:p.Asp184Val
NM_000153.4:c.719A>T MANE Select	NP_000144.2:p.Asp240Val
NM_001201401.2:c.650A>T	NP_001188330.1:p.Asp217Val
NM_001201402.2:c.641A>T	NP_001188331.1:p.Asp214Val