Canonical Allele Identifier: CA390747892

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88434743C>G (hg19) ; chr14:g.87968399C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968399C>G , CM000676.2:g.87968399C>G	GRCh38
NC_000014.8:g.88434743C>G , CM000676.1:g.88434743C>G	GRCh37
NC_000014.7:g.87504496C>G	NCBI36
NG_011853.2:g.30165G>C
NG_011853.3:g.30165G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.844G>C MANE Select	ENSP00000261304.2:p.Asp282His
ENST00000261304.6:c.844G>C	ENSP00000261304.2:p.Asp282His
ENST00000393568.8:c.775G>C	ENSP00000377198.4:p.Asp259His
ENST00000393569.6:c.766G>C	ENSP00000377199.2:p.Asp256His
ENST00000474294.6:n.834G>C
ENST00000477716.3:n.599G>C
ENST00000544807.6:c.676G>C	ENSP00000437513.2:p.Asp226His
ENST00000555000.5:c.211G>C	ENSP00000450472.1:p.Asp71His
ENST00000557316.5:c.*242G>C	ENSP00000452314.1:n.*242G>C
ENST00000622264.4:c.834G>C
NM_000153.3:c.844G>C	NP_000144.2:p.Asp282His
NM_001201401.1:c.775G>C	NP_001188330.1:p.Asp259His
NM_001201402.1:c.766G>C	NP_001188331.1:p.Asp256His
XM_011536618.1:c.676G>C	XP_011534920.1:p.Asp226His
XM_011536618.2:c.676G>C	XP_011534920.1:p.Asp226His
NM_000153.4:c.844G>C MANE Select	NP_000144.2:p.Asp282His
NM_001201401.2:c.775G>C	NP_001188330.1:p.Asp259His
NM_001201402.2:c.766G>C	NP_001188331.1:p.Asp256His