Canonical Allele Identifier: CA121306

Gene: NHS

Linked Data

• ClinVar Variation Id: 11025
• ClinVar RCV Id: RCV000011772 ; RCV000082793 ; RCV004549356
• dbSNP Id: rs132630322
• gnomAD v4: X-17724370-C-T
• COSMIC: COSM1217297 ; COSM1217298
• MyVariant Identifiers: chrX:g.17742490C>T (hg19) ; chrX:g.17724370C>T (hg38)
• PubMed: PMID:14564667 ; PMID:16736028

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17724370C>T , CM000685.2:g.17724370C>T	GRCh38
NC_000023.10:g.17742490C>T , CM000685.1:g.17742490C>T	GRCh37
NC_000023.9:g.17652411C>T	NCBI36
NG_011553.2:g.353951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615422.2:n.1575C>T
ENST00000690213.1:n.3060C>T
ENST00000676302.1:c.1180C>T MANE Select	ENSP00000502262.1:p.Arg394Ter
ENST00000380060.7:c.1117C>T	ENSP00000369400.3:p.Arg373Ter
ENST00000398097.7:c.649C>T	ENSP00000381170.3:p.Arg217Ter
ENST00000485305.1:n.409C>T
ENST00000615422.1:c.640C>T	ENSP00000480113.1:p.Arg214Ter
ENST00000617601.4:c.568C>T	ENSP00000478433.1:p.Arg190Ter
NM_001136024.3:c.649C>T	NP_001129496.1:p.Arg217Ter
NM_001291867.1:c.1180C>T	NP_001278796.1:p.Arg394Ter
NM_001291868.1:c.586C>T	NP_001278797.1:p.Arg196Ter
NM_198270.3:c.1117C>T	NP_938011.1:p.Arg373Ter
XM_011545528.1:c.232C>T	XP_011543830.1:p.Arg78Ter
XM_011545528.2:c.232C>T	XP_011543830.1:p.Arg78Ter
NM_001136024.4:c.649C>T	NP_001129496.1:p.Arg217Ter
NM_001291867.2:c.1180C>T MANE Select	NP_001278796.1:p.Arg394Ter
NM_001291868.2:c.586C>T	NP_001278797.1:p.Arg196Ter
NM_198270.4:c.1117C>T	NP_938011.1:p.Arg373Ter