Canonical Allele Identifier: CA390746227

Gene: GALC

Linked Data

• gnomAD v4: 14-87945680-C-G
• MyVariant Identifiers: chr14:g.88412024C>G (hg19) ; chr14:g.87945680C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945680C>G , CM000676.2:g.87945680C>G	GRCh38
NC_000014.8:g.88412024C>G , CM000676.1:g.88412024C>G	GRCh37
NC_000014.7:g.87481777C>G	NCBI36
NG_011853.2:g.52884G>C
NG_011853.3:g.52884G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1543G>C MANE Select	ENSP00000261304.2:p.Glu515Gln
ENST00000261304.6:c.1543G>C	ENSP00000261304.2:p.Glu515Gln
ENST00000393568.8:c.1474G>C	ENSP00000377198.4:p.Glu492Gln
ENST00000393569.6:c.1465G>C	ENSP00000377199.2:p.Glu489Gln
ENST00000544807.6:c.1375G>C	ENSP00000437513.2:p.Glu459Gln
ENST00000555000.5:c.910G>C	ENSP00000450472.1:p.Glu304Gln
ENST00000555179.1:c.206+2048G>C
ENST00000557316.5:c.*941G>C	ENSP00000452314.1:n.*941G>C
NM_000153.3:c.1543G>C	NP_000144.2:p.Glu515Gln
NM_001201401.1:c.1474G>C	NP_001188330.1:p.Glu492Gln
NM_001201402.1:c.1465G>C	NP_001188331.1:p.Glu489Gln
XM_011536618.1:c.1375G>C	XP_011534920.1:p.Glu459Gln
XM_011536618.2:c.1375G>C	XP_011534920.1:p.Glu459Gln
NM_000153.4:c.1543G>C MANE Select	NP_000144.2:p.Glu515Gln
NM_001201401.2:c.1474G>C	NP_001188330.1:p.Glu492Gln
NM_001201402.2:c.1465G>C	NP_001188331.1:p.Glu489Gln