Canonical Allele Identifier: CA91794311

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6289068G>A , CM000666.2:g.6289068G>A	GRCh38
NC_000004.11:g.6290795G>A , CM000666.1:g.6290795G>A	GRCh37
NC_000004.10:g.6341696G>A	NCBI36
NG_011700.1:g.24219G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.397G>A MANE Select	NP_005996.2:p.Ala133Thr
ENST00000226760.5:c.397G>A MANE Select	ENSP00000226760.1:p.Ala133Thr
NM_001145853.1:c.397G>A	NP_001139325.1:p.Ala133Thr
ENST00000503569.5:c.397G>A	ENSP00000423337.1:p.Ala133Thr
ENST00000506362.2:c.148G>A	ENSP00000424103.2:p.Ala50Thr
ENST00000507765.1:n.582G>A
ENST00000673642.1:c.196G>A	ENSP00000501242.1:p.Ala66Thr
ENST00000673991.1:c.397G>A	ENSP00000501033.1:p.Ala133Thr
ENST00000674051.1:c.271G>A	ENSP00000501083.1:p.Ala91Thr
ENST00000682275.1:c.397G>A	ENSP00000507852.1:p.Ala133Thr
ENST00000683395.1:c.387G>A
ENST00000684054.1:c.397G>A	ENSP00000507120.1:p.Ala133Thr
ENST00000684087.1:c.397G>A	ENSP00000506978.1:p.Ala133Thr
ENST00000684700.1:c.397G>A	ENSP00000507806.1:p.Ala133Thr
XM_017008586.1:c.406G>A	XP_016864075.1:p.Ala136Thr