Canonical Allele Identifier: CA10358622
Community Standard Title: NM_001291867.2(NHS):c.1466A>G (p.Lys489Arg)
Gene: NHS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.17725572A>G , CM000685.2:g.17725572A>G GRCh38
NC_000023.10:g.17743692A>G , CM000685.1:g.17743692A>G GRCh37
NC_000023.9:g.17653613A>G NCBI36
NG_011553.2:g.355153A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001291867.2:c.1466A>G MANE Select NP_001278796.1:p.Lys489Arg
ENST00000676302.1:c.1466A>G MANE Select ENSP00000502262.1:p.Lys489Arg
NM_001136024.3:c.935A>G NP_001129496.1:p.Lys312Arg
NM_001136024.4:c.935A>G NP_001129496.1:p.Lys312Arg
NM_001291867.1:c.1466A>G NP_001278796.1:p.Lys489Arg
NM_001291868.1:c.872A>G NP_001278797.1:p.Lys291Arg
NM_001291868.2:c.872A>G NP_001278797.1:p.Lys291Arg
NM_198270.3:c.1403A>G NP_938011.1:p.Lys468Arg
NM_198270.4:c.1403A>G NP_938011.1:p.Lys468Arg
ENST00000380060.7:c.1403A>G ENSP00000369400.3:p.Lys468Arg
ENST00000398097.7:c.935A>G ENSP00000381170.3:p.Lys312Arg
ENST00000615422.1:c.926A>G ENSP00000480113.1:p.Lys309Arg
ENST00000615422.2:n.1861A>G
ENST00000617601.4:c.854A>G ENSP00000478433.1:p.Lys285Arg
ENST00000690213.1:n.3346A>G
ENST00000690608.1:n.423A>G
XM_011545528.1:c.518A>G XP_011543830.1:p.Lys173Arg
XM_011545528.2:c.518A>G XP_011543830.1:p.Lys173Arg