Canonical Allele Identifier: CA2499222770

Gene: GALC

Linked Data

• ClinVar Variation Id: 1096490
• ClinVar RCV Id: RCV001417737
• dbSNP Id: rs2140016510

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976498T>G , CM000676.2:g.87976498T>G	GRCh38
NC_000014.8:g.88442842T>G , CM000676.1:g.88442842T>G	GRCh37
NC_000014.7:g.87512595T>G	NCBI36
NG_011853.2:g.22066A>C
NG_011853.3:g.22066A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.622-10A>C MANE Select	ENSP00000261304.2:n.622-10A>C
ENST00000261304.6:c.622-10A>C	ENSP00000261304.2:n.622-10A>C
ENST00000393568.8:c.553-10A>C	ENSP00000377198.4:n.553-10A>C
ENST00000393569.6:c.544-10A>C	ENSP00000377199.2:n.544-10A>C
ENST00000474294.6:n.612-10A>C
ENST00000477716.3:n.367A>C
ENST00000544807.6:c.454-10A>C	ENSP00000437513.2:n.454-10A>C
ENST00000554916.5:n.501-10A>C
ENST00000555000.5:c.-12-10A>C	ENSP00000450472.1:n.-12-10A>C
ENST00000557316.5:c.*20-10A>C	ENSP00000452314.1:n.*20-10A>C
ENST00000622264.4:c.612-10A>C
NM_000153.3:c.622-10A>C	NP_000144.2:n.622-10A>C
NM_001201401.1:c.553-10A>C	NP_001188330.1:n.553-10A>C
NM_001201402.1:c.544-10A>C	NP_001188331.1:n.544-10A>C
XM_011536618.1:c.454-10A>C	XP_011534920.1:n.454-10A>C
XM_011536618.2:c.454-10A>C	XP_011534920.1:n.454-10A>C
NM_000153.4:c.622-10A>C MANE Select	NP_000144.2:n.622-10A>C
NM_001201401.2:c.553-10A>C	NP_001188330.1:n.553-10A>C
NM_001201402.2:c.544-10A>C	NP_001188331.1:n.544-10A>C