Canonical Allele Identifier: CA16603289

Gene: GALC

Linked Data

• ClinVar Variation Id: 377174
• ClinVar RCV Id: RCV000437734 ; RCV001833513
• dbSNP Id: rs1057520151
• gnomAD v4: 14-87947862-C-T
• MyVariant Identifiers: chr14:g.88414206C>T (hg19) ; chr14:g.87947862C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947862C>T , CM000676.2:g.87947862C>T	GRCh38
NC_000014.8:g.88414206C>T , CM000676.1:g.88414206C>T	GRCh37
NC_000014.7:g.87483959C>T	NCBI36
NG_011853.2:g.50702G>A
NG_011853.3:g.50702G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1355G>A MANE Select	ENSP00000261304.2:p.Gly452Asp
ENST00000261304.6:c.1355G>A	ENSP00000261304.2:p.Gly452Asp
ENST00000393568.8:c.1286G>A	ENSP00000377198.4:p.Gly429Asp
ENST00000393569.6:c.1277G>A	ENSP00000377199.2:p.Gly426Asp
ENST00000544807.6:c.1187G>A	ENSP00000437513.2:p.Gly396Asp
ENST00000555000.5:c.722G>A	ENSP00000450472.1:p.Gly241Asp
ENST00000555179.1:c.72G>A
ENST00000557316.5:c.*753G>A	ENSP00000452314.1:n.*753G>A
NM_000153.3:c.1355G>A	NP_000144.2:p.Gly452Asp
NM_001201401.1:c.1286G>A	NP_001188330.1:p.Gly429Asp
NM_001201402.1:c.1277G>A	NP_001188331.1:p.Gly426Asp
XM_011536618.1:c.1187G>A	XP_011534920.1:p.Gly396Asp
XM_011536618.2:c.1187G>A	XP_011534920.1:p.Gly396Asp
NM_000153.4:c.1355G>A MANE Select	NP_000144.2:p.Gly452Asp
NM_001201401.2:c.1286G>A	NP_001188330.1:p.Gly429Asp
NM_001201402.2:c.1277G>A	NP_001188331.1:p.Gly426Asp