Canonical Allele Identifier: CA487355720

Gene: GALC

Linked Data

• ClinVar Variation Id: 1703038
• ClinVar RCV Id: RCV002280004
• dbSNP Id: rs1192426175
• gnomAD v4: 14-87949829-T-C
• MyVariant Identifiers: chr14:g.88416173T>C (hg19) ; chr14:g.87949829T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87949829T>C , CM000676.2:g.87949829T>C	GRCh38
NC_000014.8:g.88416173T>C , CM000676.1:g.88416173T>C	GRCh37
NC_000014.7:g.87485926T>C	NCBI36
NG_011853.2:g.48735A>G
NG_011853.3:g.48735A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1338+16A>G MANE Select	ENSP00000261304.2:n.1338+16A>G
ENST00000261304.6:c.1338+16A>G	ENSP00000261304.2:n.1338+16A>G
ENST00000393568.8:c.1269+16A>G	ENSP00000377198.4:n.1269+16A>G
ENST00000393569.6:c.1260+16A>G	ENSP00000377199.2:n.1260+16A>G
ENST00000544807.6:c.1170+16A>G	ENSP00000437513.2:n.1170+16A>G
ENST00000555000.5:c.705+16A>G	ENSP00000450472.1:n.705+16A>G
ENST00000555179.1:c.55+16A>G
ENST00000557316.5:c.*736+16A>G	ENSP00000452314.1:n.*736+16A>G
NM_000153.3:c.1338+16A>G	NP_000144.2:n.1338+16A>G
NM_001201401.1:c.1269+16A>G	NP_001188330.1:n.1269+16A>G
NM_001201402.1:c.1260+16A>G	NP_001188331.1:n.1260+16A>G
XM_011536618.1:c.1170+16A>G	XP_011534920.1:n.1170+16A>G
XM_011536618.2:c.1170+16A>G	XP_011534920.1:n.1170+16A>G
NM_000153.4:c.1338+16A>G MANE Select	NP_000144.2:n.1338+16A>G
NM_001201401.2:c.1269+16A>G	NP_001188330.1:n.1269+16A>G
NM_001201402.2:c.1260+16A>G	NP_001188331.1:n.1260+16A>G