Canonical Allele Identifier: CA326957179
Gene: NHS HGNC NCBI

Linked Data

dbSNP Id: rs5955543
gnomAD v2: X-17698397-A-G
gnomAD v3: X-17680277-A-G
gnomAD v4: X-17680277-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.17680277A>G , CM000685.2:g.17680277A>G GRCh38
NC_000023.10:g.17698397A>G , CM000685.1:g.17698397A>G GRCh37
NC_000023.9:g.17608318A>G NCBI36
NG_011553.2:g.309858A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648929.1:c.227-7465A>G ENSP00000497676.1:n.227-7465A>G
ENST00000676302.1:c.566-7465A>G MANE Select ENSP00000502262.1:n.566-7465A>G
ENST00000380060.7:c.566-7465A>G ENSP00000369400.3:n.566-7465A>G
ENST00000398097.7:c.35-7465A>G ENSP00000381170.3:n.35-7465A>G
ENST00000617601.4:c.17-7465A>G ENSP00000478433.1:n.17-7465A>G
NM_001136024.3:c.35-7465A>G NP_001129496.1:n.35-7465A>G
NM_001291867.1:c.566-7465A>G NP_001278796.1:n.566-7465A>G
NM_001291868.1:c.35-7465A>G NP_001278797.1:n.35-7465A>G
NM_198270.3:c.566-7465A>G NP_938011.1:n.566-7465A>G
NM_001136024.4:c.35-7465A>G NP_001129496.1:n.35-7465A>G
NM_001291867.2:c.566-7465A>G MANE Select NP_001278796.1:n.566-7465A>G
NM_001291868.2:c.35-7465A>G NP_001278797.1:n.35-7465A>G
NM_198270.4:c.566-7465A>G NP_938011.1:n.566-7465A>G