Canonical Allele Identifier: CA10358589
Community Standard Title: NM_001291867.2(NHS):c.1228C>G (p.Gln410Glu)
Gene: NHS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.17724418C>G , CM000685.2:g.17724418C>G GRCh38
NC_000023.10:g.17742538C>G , CM000685.1:g.17742538C>G GRCh37
NC_000023.9:g.17652459C>G NCBI36
NG_011553.2:g.353999C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001291867.2:c.1228C>G MANE Select NP_001278796.1:p.Gln410Glu
ENST00000676302.1:c.1228C>G MANE Select ENSP00000502262.1:p.Gln410Glu
NM_001136024.3:c.697C>G NP_001129496.1:p.Gln233Glu
NM_001136024.4:c.697C>G NP_001129496.1:p.Gln233Glu
NM_001291867.1:c.1228C>G NP_001278796.1:p.Gln410Glu
NM_001291868.1:c.634C>G NP_001278797.1:p.Gln212Glu
NM_001291868.2:c.634C>G NP_001278797.1:p.Gln212Glu
NM_198270.3:c.1165C>G NP_938011.1:p.Gln389Glu
NM_198270.4:c.1165C>G NP_938011.1:p.Gln389Glu
ENST00000380060.7:c.1165C>G ENSP00000369400.3:p.Gln389Glu
ENST00000398097.7:c.697C>G ENSP00000381170.3:p.Gln233Glu
ENST00000615422.1:c.688C>G ENSP00000480113.1:p.Gln230Glu
ENST00000615422.2:n.1623C>G
ENST00000617601.4:c.616C>G ENSP00000478433.1:p.Gln206Glu
ENST00000690213.1:n.3108C>G
XM_011545528.1:c.280C>G XP_011543830.1:p.Gln94Glu
XM_011545528.2:c.280C>G XP_011543830.1:p.Gln94Glu