Canonical Allele Identifier: CA10358665
Community Standard Title: NM_001291867.2(NHS):c.1835C>T (p.Thr612Met)
Gene: NHS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.17725941C>T , CM000685.2:g.17725941C>T GRCh38
NC_000023.10:g.17744061C>T , CM000685.1:g.17744061C>T GRCh37
NC_000023.9:g.17653982C>T NCBI36
NG_011553.2:g.355522C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001291867.2:c.1835C>T MANE Select NP_001278796.1:p.Thr612Met
ENST00000676302.1:c.1835C>T MANE Select ENSP00000502262.1:p.Thr612Met
NM_001136024.3:c.1304C>T NP_001129496.1:p.Thr435Met
NM_001136024.4:c.1304C>T NP_001129496.1:p.Thr435Met
NM_001291867.1:c.1835C>T NP_001278796.1:p.Thr612Met
NM_001291868.1:c.1241C>T NP_001278797.1:p.Thr414Met
NM_001291868.2:c.1241C>T NP_001278797.1:p.Thr414Met
NM_198270.3:c.1772C>T NP_938011.1:p.Thr591Met
NM_198270.4:c.1772C>T NP_938011.1:p.Thr591Met
ENST00000380060.7:c.1772C>T ENSP00000369400.3:p.Thr591Met
ENST00000398097.7:c.1304C>T ENSP00000381170.3:p.Thr435Met
ENST00000615422.1:c.1295C>T ENSP00000480113.1:p.Thr432Met
ENST00000615422.2:n.2230C>T
ENST00000617601.4:c.1223C>T ENSP00000478433.1:p.Thr408Met
ENST00000690608.1:n.792C>T
XM_011545528.1:c.887C>T XP_011543830.1:p.Thr296Met
XM_011545528.2:c.887C>T XP_011543830.1:p.Thr296Met