Canonical Allele Identifier: CA412326771
Community Standard Title: NM_001291867.2(NHS):c.719-1G>A
Gene: NHS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.17692334G>A , CM000685.2:g.17692334G>A GRCh38
NC_000023.10:g.17710454G>A , CM000685.1:g.17710454G>A GRCh37
NC_000023.9:g.17620375G>A NCBI36
NG_011553.2:g.321915G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001291867.2:c.719-1G>A MANE Select NP_001278796.1:n.719-1G>A
ENST00000676302.1:c.719-1G>A MANE Select ENSP00000502262.1:n.719-1G>A
NM_001136024.3:c.188-1G>A NP_001129496.1:n.188-1G>A
NM_001136024.4:c.188-1G>A NP_001129496.1:n.188-1G>A
NM_001291867.1:c.719-1G>A NP_001278796.1:n.719-1G>A
NM_001291868.1:c.188-1G>A NP_001278797.1:n.188-1G>A
NM_001291868.2:c.188-1G>A NP_001278797.1:n.188-1G>A
NM_198270.3:c.719-1G>A NP_938011.1:n.719-1G>A
NM_198270.4:c.719-1G>A NP_938011.1:n.719-1G>A
ENST00000380060.7:c.719-1G>A ENSP00000369400.3:n.719-1G>A
ENST00000398097.7:c.188-1G>A ENSP00000381170.3:n.188-1G>A
ENST00000615422.1:c.179-1G>A ENSP00000480113.1:n.179-1G>A
ENST00000615422.2:n.1114-1G>A
ENST00000617601.4:c.170-1G>A ENSP00000478433.1:n.170-1G>A