Canonical Allele Identifier: CA2580088865

Gene: GALC

Linked Data

• ClinVar Variation Id: 2112539
• ClinVar RCV Id: RCV003034617

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988448T>C , CM000676.2:g.87988448T>C	GRCh38
NC_000014.8:g.88454792T>C , CM000676.1:g.88454792T>C	GRCh37
NC_000014.7:g.87524545T>C	NCBI36
NG_011853.2:g.10116A>G
NG_011853.3:g.10116A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.264+7A>G MANE Select	ENSP00000261304.2:n.264+7A>G
ENST00000261304.6:c.264+7A>G	ENSP00000261304.2:n.264+7A>G
ENST00000393568.8:c.196-241A>G	ENSP00000377198.4:n.196-241A>G
ENST00000393569.6:c.186+7A>G	ENSP00000377199.2:n.186+7A>G
ENST00000474294.6:n.254+7A>G
ENST00000544807.6:c.96+7A>G	ENSP00000437513.2:n.96+7A>G
ENST00000554372.5:c.264+7A>G	ENSP00000451884.1:n.264+7A>G
ENST00000554916.5:n.143+7A>G
ENST00000555956.1:n.69+7A>G
ENST00000556879.5:c.324+7A>G	ENSP00000452208.1:n.324+7A>G
ENST00000557316.5:c.264+7A>G	ENSP00000452314.1:n.264+7A>G
ENST00000622264.4:c.254+7A>G
NM_000153.3:c.264+7A>G	NP_000144.2:n.264+7A>G
NM_001201401.1:c.196-241A>G	NP_001188330.1:n.196-241A>G
NM_001201402.1:c.186+7A>G	NP_001188331.1:n.186+7A>G
XM_011536618.1:c.96+7A>G	XP_011534920.1:n.96+7A>G
XM_011536618.2:c.96+7A>G	XP_011534920.1:n.96+7A>G
NM_000153.4:c.264+7A>G MANE Select	NP_000144.2:n.264+7A>G
NM_001201401.2:c.196-241A>G	NP_001188330.1:n.196-241A>G
NM_001201402.2:c.186+7A>G	NP_001188331.1:n.186+7A>G