Canonical Allele Identifier: CA10358812
Community Standard Title: NM_001291867.2(NHS):c.3314G>A (p.Arg1105His)
Gene: NHS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.17727420G>A , CM000685.2:g.17727420G>A GRCh38
NC_000023.10:g.17745540G>A , CM000685.1:g.17745540G>A GRCh37
NC_000023.9:g.17655461G>A NCBI36
NG_011553.2:g.357001G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001291867.2:c.3314G>A MANE Select NP_001278796.1:p.Arg1105His
ENST00000676302.1:c.3314G>A MANE Select ENSP00000502262.1:p.Arg1105His
NM_001136024.3:c.2783G>A NP_001129496.1:p.Arg928His
NM_001136024.4:c.2783G>A NP_001129496.1:p.Arg928His
NM_001291867.1:c.3314G>A NP_001278796.1:p.Arg1105His
NM_001291868.1:c.2720G>A NP_001278797.1:p.Arg907His
NM_001291868.2:c.2720G>A NP_001278797.1:p.Arg907His
NM_198270.3:c.3251G>A NP_938011.1:p.Arg1084His
NM_198270.4:c.3251G>A NP_938011.1:p.Arg1084His
ENST00000380060.7:c.3251G>A ENSP00000369400.3:p.Arg1084His
ENST00000398097.7:c.2783G>A ENSP00000381170.3:p.Arg928His
ENST00000615422.1:c.2774G>A ENSP00000480113.1:p.Arg925His
ENST00000615422.2:n.3709G>A
ENST00000617601.4:c.2702G>A ENSP00000478433.1:p.Arg901His
ENST00000690608.1:n.2271G>A
XM_011545528.1:c.2366G>A XP_011543830.1:p.Arg789His
XM_011545528.2:c.2366G>A XP_011543830.1:p.Arg789His