Canonical Allele Identifier: CA2573150202

Gene: GALC

Linked Data

• ClinVar Variation Id: 1472649
• ClinVar RCV Id: RCV001969329
• dbSNP Id: rs1567014543
• gnomAD v4: 14-87988452-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988452T>G , CM000676.2:g.87988452T>G	GRCh38
NC_000014.8:g.88454796T>G , CM000676.1:g.88454796T>G	GRCh37
NC_000014.7:g.87524549T>G	NCBI36
NG_011853.2:g.10112A>C
NG_011853.3:g.10112A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.264+3A>C MANE Select	ENSP00000261304.2:n.264+3A>C
ENST00000261304.6:c.264+3A>C	ENSP00000261304.2:n.264+3A>C
ENST00000393568.8:c.196-245A>C	ENSP00000377198.4:n.196-245A>C
ENST00000393569.6:c.186+3A>C	ENSP00000377199.2:n.186+3A>C
ENST00000474294.6:n.254+3A>C
ENST00000544807.6:c.96+3A>C	ENSP00000437513.2:n.96+3A>C
ENST00000554372.5:c.264+3A>C	ENSP00000451884.1:n.264+3A>C
ENST00000554916.5:n.143+3A>C
ENST00000555956.1:n.69+3A>C
ENST00000556879.5:c.324+3A>C	ENSP00000452208.1:n.324+3A>C
ENST00000557316.5:c.264+3A>C	ENSP00000452314.1:n.264+3A>C
ENST00000622264.4:c.254+3A>C
NM_000153.3:c.264+3A>C	NP_000144.2:n.264+3A>C
NM_001201401.1:c.196-245A>C	NP_001188330.1:n.196-245A>C
NM_001201402.1:c.186+3A>C	NP_001188331.1:n.186+3A>C
XM_011536618.1:c.96+3A>C	XP_011534920.1:n.96+3A>C
XM_011536618.2:c.96+3A>C	XP_011534920.1:n.96+3A>C
NM_000153.4:c.264+3A>C MANE Select	NP_000144.2:n.264+3A>C
NM_001201401.2:c.196-245A>C	NP_001188330.1:n.196-245A>C
NM_001201402.2:c.186+3A>C	NP_001188331.1:n.186+3A>C