Canonical Allele Identifier: CA390746345

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88412076A>C (hg19) ; chr14:g.87945732A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945732A>C , CM000676.2:g.87945732A>C	GRCh38
NC_000014.8:g.88412076A>C , CM000676.1:g.88412076A>C	GRCh37
NC_000014.7:g.87481829A>C	NCBI36
NG_011853.2:g.52832T>G
NG_011853.3:g.52832T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1491T>G MANE Select	ENSP00000261304.2:p.Asp497Glu
ENST00000261304.6:c.1491T>G	ENSP00000261304.2:p.Asp497Glu
ENST00000393568.8:c.1422T>G	ENSP00000377198.4:p.Asp474Glu
ENST00000393569.6:c.1413T>G	ENSP00000377199.2:p.Asp471Glu
ENST00000544807.6:c.1323T>G	ENSP00000437513.2:p.Asp441Glu
ENST00000555000.5:c.858T>G	ENSP00000450472.1:p.Asp286Glu
ENST00000555179.1:c.206+1996T>G
ENST00000557316.5:c.*889T>G	ENSP00000452314.1:n.*889T>G
NM_000153.3:c.1491T>G	NP_000144.2:p.Asp497Glu
NM_001201401.1:c.1422T>G	NP_001188330.1:p.Asp474Glu
NM_001201402.1:c.1413T>G	NP_001188331.1:p.Asp471Glu
XM_011536618.1:c.1323T>G	XP_011534920.1:p.Asp441Glu
XM_011536618.2:c.1323T>G	XP_011534920.1:p.Asp441Glu
NM_000153.4:c.1491T>G MANE Select	NP_000144.2:p.Asp497Glu
NM_001201401.2:c.1422T>G	NP_001188330.1:p.Asp474Glu
NM_001201402.2:c.1413T>G	NP_001188331.1:p.Asp471Glu