Canonical Allele Identifier: CA356174253

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300894G>T , CM000666.2:g.6300894G>T	GRCh38
NC_000004.11:g.6302621G>T , CM000666.1:g.6302621G>T	GRCh37
NC_000004.10:g.6353522G>T	NCBI36
NG_011700.1:g.36045G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.1099G>T MANE Select	NP_005996.2:p.Asp367Tyr
ENST00000226760.5:c.1099G>T MANE Select	ENSP00000226760.1:p.Asp367Tyr
NM_001145853.1:c.1099G>T	NP_001139325.1:p.Asp367Tyr
ENST00000503569.5:c.1099G>T	ENSP00000423337.1:p.Asp367Tyr
ENST00000506362.1:c.732G>T
ENST00000506362.2:c.850G>T	ENSP00000424103.2:p.Asp284Tyr
ENST00000507765.1:n.1284G>T
ENST00000673642.1:c.758G>T	ENSP00000501242.1:p.Gly253Val
ENST00000673991.1:c.1135G>T	ENSP00000501033.1:p.Asp379Tyr
ENST00000682275.1:c.1135G>T	ENSP00000507852.1:p.Asp379Tyr
ENST00000683395.1:c.1076G>T
ENST00000684087.1:c.1099G>T	ENSP00000506978.1:p.Asp367Tyr
XM_017008586.1:c.1108G>T	XP_016864075.1:p.Asp370Tyr