Canonical Allele Identifier: CA234375

Gene: NHS

Linked Data

• ClinVar Variation Id: 167351
• ClinVar RCV Id: RCV000153563 ; RCV000764867 ; RCV002316969 ; RCV001349017
• dbSNP Id: rs727504039
• ExAC: X:17394032 C / T
• gnomAD v2: X-17394032-C-T
• gnomAD v3: X-17375909-C-T
• gnomAD v4: X-17375909-C-T
• MyVariant Identifiers: chrX:g.17394032C>T (hg19) ; chrX:g.17375909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17375909C>T , CM000685.2:g.17375909C>T	GRCh38
NC_000023.10:g.17394032C>T , CM000685.1:g.17394032C>T	GRCh37
NC_000023.9:g.17303953C>T	NCBI36
NG_011553.2:g.5490C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000676302.1:c.152C>T MANE Select	ENSP00000502262.1:p.Ala51Val
ENST00000380060.7:c.152C>T	ENSP00000369400.3:p.Ala51Val
NM_001291867.1:c.152C>T	NP_001278796.1:p.Ala51Val
NM_198270.3:c.152C>T	NP_938011.1:p.Ala51Val
NM_001291867.2:c.152C>T MANE Select	NP_001278796.1:p.Ala51Val
NM_198270.4:c.152C>T	NP_938011.1:p.Ala51Val