Canonical Allele Identifier: CA2499222772

Gene: GALC

Linked Data

• ClinVar Variation Id: 1080470
• ClinVar RCV Id: RCV001396086
• dbSNP Id: rs2139749320

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984387T>C , CM000676.2:g.87984387T>C	GRCh38
NC_000014.8:g.88450731T>C , CM000676.1:g.88450731T>C	GRCh37
NC_000014.7:g.87520484T>C	NCBI36
NG_011853.2:g.14177A>G
NG_011853.3:g.14177A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.582+7A>G MANE Select	ENSP00000261304.2:n.582+7A>G
ENST00000261304.6:c.582+7A>G	ENSP00000261304.2:n.582+7A>G
ENST00000393568.8:c.513+7A>G	ENSP00000377198.4:n.513+7A>G
ENST00000393569.6:c.504+7A>G	ENSP00000377199.2:n.504+7A>G
ENST00000474294.6:n.572+7A>G
ENST00000544807.6:c.414+7A>G	ENSP00000437513.2:n.414+7A>G
ENST00000554372.5:c.*331+7A>G	ENSP00000451884.1:n.*331+7A>G
ENST00000554916.5:n.461+7A>G
ENST00000556261.5:n.283+7A>G
ENST00000557316.5:c.582+7A>G	ENSP00000452314.1:n.582+7A>G
ENST00000622264.4:c.572+7A>G
NM_000153.3:c.582+7A>G	NP_000144.2:n.582+7A>G
NM_001201401.1:c.513+7A>G	NP_001188330.1:n.513+7A>G
NM_001201402.1:c.504+7A>G	NP_001188331.1:n.504+7A>G
XM_011536618.1:c.414+7A>G	XP_011534920.1:n.414+7A>G
XM_011536618.2:c.414+7A>G	XP_011534920.1:n.414+7A>G
NM_000153.4:c.582+7A>G MANE Select	NP_000144.2:n.582+7A>G
NM_001201401.2:c.513+7A>G	NP_001188330.1:n.513+7A>G
NM_001201402.2:c.504+7A>G	NP_001188331.1:n.504+7A>G