Canonical Allele Identifier: CA412367574

Gene: NHS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17728259G>A , CM000685.2:g.17728259G>A	GRCh38
NC_000023.10:g.17746379G>A , CM000685.1:g.17746379G>A	GRCh37
NC_000023.9:g.17656300G>A	NCBI36
NG_011553.2:g.357840G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001291867.2:c.4153G>A MANE Select	NP_001278796.1:p.Ala1385Thr
ENST00000676302.1:c.4153G>A MANE Select	ENSP00000502262.1:p.Ala1385Thr
NM_001136024.3:c.3622G>A	NP_001129496.1:p.Ala1208Thr
NM_001136024.4:c.3622G>A	NP_001129496.1:p.Ala1208Thr
NM_001291867.1:c.4153G>A	NP_001278796.1:p.Ala1385Thr
NM_001291868.1:c.3559G>A	NP_001278797.1:p.Ala1187Thr
NM_001291868.2:c.3559G>A	NP_001278797.1:p.Ala1187Thr
NM_198270.3:c.4090G>A	NP_938011.1:p.Ala1364Thr
NM_198270.4:c.4090G>A	NP_938011.1:p.Ala1364Thr
ENST00000380060.7:c.4090G>A	ENSP00000369400.3:p.Ala1364Thr
ENST00000398097.7:c.3622G>A	ENSP00000381170.3:p.Ala1208Thr
ENST00000615422.1:c.3613G>A	ENSP00000480113.1:p.Ala1205Thr
ENST00000615422.2:n.4548G>A
ENST00000617601.4:c.3541G>A	ENSP00000478433.1:p.Ala1181Thr
ENST00000690608.1:n.3110G>A
XM_011545528.1:c.3205G>A	XP_011543830.1:p.Ala1069Thr
XM_011545528.2:c.3205G>A	XP_011543830.1:p.Ala1069Thr