Canonical Allele Identifier: CA264687511

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87949585C>T , CM000676.2:g.87949585C>T	GRCh38
NC_000014.8:g.88415929C>T , CM000676.1:g.88415929C>T	GRCh37
NC_000014.7:g.87485682C>T	NCBI36
NG_011853.2:g.48979G>A
NG_011853.3:g.48979G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1338+260G>A MANE Select	NP_000144.2:n.1338+260G>A
ENST00000261304.7:c.1338+260G>A MANE Select	ENSP00000261304.2:n.1338+260G>A
NM_000153.3:c.1338+260G>A	NP_000144.2:n.1338+260G>A
NM_001201401.1:c.1269+260G>A	NP_001188330.1:n.1269+260G>A
NM_001201401.2:c.1269+260G>A	NP_001188330.1:n.1269+260G>A
NM_001201402.1:c.1260+260G>A	NP_001188331.1:n.1260+260G>A
NM_001201402.2:c.1260+260G>A	NP_001188331.1:n.1260+260G>A
ENST00000261304.6:c.1338+260G>A	ENSP00000261304.2:n.1338+260G>A
ENST00000393568.8:c.1269+260G>A	ENSP00000377198.4:n.1269+260G>A
ENST00000393569.6:c.1260+260G>A	ENSP00000377199.2:n.1260+260G>A
ENST00000544807.6:c.1170+260G>A	ENSP00000437513.2:n.1170+260G>A
ENST00000555000.5:c.705+260G>A	ENSP00000450472.1:n.705+260G>A
ENST00000555179.1:c.55+260G>A
ENST00000557316.5:c.*736+260G>A	ENSP00000452314.1:n.*736+260G>A
XM_011536618.1:c.1170+260G>A	XP_011534920.1:n.1170+260G>A
XM_011536618.2:c.1170+260G>A	XP_011534920.1:n.1170+260G>A