Canonical Allele Identifier: CA10358702

Gene: NHS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17726331G>A , CM000685.2:g.17726331G>A	GRCh38
NC_000023.10:g.17744451G>A , CM000685.1:g.17744451G>A	GRCh37
NC_000023.9:g.17654372G>A	NCBI36
NG_011553.2:g.355912G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001291867.2:c.2225G>A MANE Select	NP_001278796.1:p.Arg742His
ENST00000676302.1:c.2225G>A MANE Select	ENSP00000502262.1:p.Arg742His
NM_001136024.3:c.1694G>A	NP_001129496.1:p.Arg565His
NM_001136024.4:c.1694G>A	NP_001129496.1:p.Arg565His
NM_001291867.1:c.2225G>A	NP_001278796.1:p.Arg742His
NM_001291868.1:c.1631G>A	NP_001278797.1:p.Arg544His
NM_001291868.2:c.1631G>A	NP_001278797.1:p.Arg544His
NM_198270.3:c.2162G>A	NP_938011.1:p.Arg721His
NM_198270.4:c.2162G>A	NP_938011.1:p.Arg721His
ENST00000380060.7:c.2162G>A	ENSP00000369400.3:p.Arg721His
ENST00000398097.7:c.1694G>A	ENSP00000381170.3:p.Arg565His
ENST00000615422.1:c.1685G>A	ENSP00000480113.1:p.Arg562His
ENST00000615422.2:n.2620G>A
ENST00000617601.4:c.1613G>A	ENSP00000478433.1:p.Arg538His
ENST00000690608.1:n.1182G>A
XM_011545528.1:c.1277G>A	XP_011543830.1:p.Arg426His
XM_011545528.2:c.1277G>A	XP_011543830.1:p.Arg426His