Canonical Allele Identifier: CA2625959158

Gene: GALC

Linked Data

• gnomAD v4: 14-87949835-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87949835T>G , CM000676.2:g.87949835T>G	GRCh38
NC_000014.8:g.88416179T>G , CM000676.1:g.88416179T>G	GRCh37
NC_000014.7:g.87485932T>G	NCBI36
NG_011853.2:g.48729A>C
NG_011853.3:g.48729A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1338+10A>C MANE Select	ENSP00000261304.2:n.1338+10A>C
ENST00000261304.6:c.1338+10A>C	ENSP00000261304.2:n.1338+10A>C
ENST00000393568.8:c.1269+10A>C	ENSP00000377198.4:n.1269+10A>C
ENST00000393569.6:c.1260+10A>C	ENSP00000377199.2:n.1260+10A>C
ENST00000544807.6:c.1170+10A>C	ENSP00000437513.2:n.1170+10A>C
ENST00000555000.5:c.705+10A>C	ENSP00000450472.1:n.705+10A>C
ENST00000555179.1:c.55+10A>C
ENST00000557316.5:c.*736+10A>C	ENSP00000452314.1:n.*736+10A>C
NM_000153.3:c.1338+10A>C	NP_000144.2:n.1338+10A>C
NM_001201401.1:c.1269+10A>C	NP_001188330.1:n.1269+10A>C
NM_001201402.1:c.1260+10A>C	NP_001188331.1:n.1260+10A>C
XM_011536618.1:c.1170+10A>C	XP_011534920.1:n.1170+10A>C
XM_011536618.2:c.1170+10A>C	XP_011534920.1:n.1170+10A>C
NM_000153.4:c.1338+10A>C MANE Select	NP_000144.2:n.1338+10A>C
NM_001201401.2:c.1269+10A>C	NP_001188330.1:n.1269+10A>C
NM_001201402.2:c.1260+10A>C	NP_001188331.1:n.1260+10A>C