Canonical Allele Identifier: CA2499222752

Gene: GALC

Linked Data

• ClinVar Variation Id: 1096862
• ClinVar RCV Id: RCV001418220
• dbSNP Id: rs2139937603

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939896A>C , CM000676.2:g.87939896A>C	GRCh38
NC_000014.8:g.88406240A>C , CM000676.1:g.88406240A>C	GRCh37
NC_000014.7:g.87475993A>C	NCBI36
NG_011853.2:g.58668T>G
NG_011853.3:g.58668T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1911+9T>G MANE Select	ENSP00000261304.2:n.1911+9T>G
ENST00000261304.6:c.1911+9T>G	ENSP00000261304.2:n.1911+9T>G
ENST00000393568.8:c.1842+9T>G	ENSP00000377198.4:n.1842+9T>G
ENST00000393569.6:c.1833+9T>G	ENSP00000377199.2:n.1833+9T>G
ENST00000544807.6:c.1743+9T>G	ENSP00000437513.2:n.1743+9T>G
ENST00000555000.5:c.1278+9T>G	ENSP00000450472.1:n.1278+9T>G
ENST00000555179.1:c.447+9T>G
NM_000153.3:c.1911+9T>G	NP_000144.2:n.1911+9T>G
NM_001201401.1:c.1842+9T>G	NP_001188330.1:n.1842+9T>G
NM_001201402.1:c.1833+9T>G	NP_001188331.1:n.1833+9T>G
XM_011536618.1:c.1743+9T>G	XP_011534920.1:n.1743+9T>G
XM_011536618.2:c.1743+9T>G	XP_011534920.1:n.1743+9T>G
NM_000153.4:c.1911+9T>G MANE Select	NP_000144.2:n.1911+9T>G
NM_001201401.2:c.1842+9T>G	NP_001188330.1:n.1842+9T>G
NM_001201402.2:c.1833+9T>G	NP_001188331.1:n.1833+9T>G