Canonical Allele Identifier: CA231331

Gene: NHS

Linked Data

• ClinVar Variation Id: 129772
• ClinVar RCV Id: RCV000117787 ; RCV003621503
• dbSNP Id: rs587780403
• ExAC: X:17744273 G / A
• gnomAD v2: X-17744273-G-A
• gnomAD v3: X-17726153-G-A
• gnomAD v4: X-17726153-G-A
• COSMIC: COSM3035548 ; COSM3035549
• MyVariant Identifiers: chrX:g.17744273G>A (hg19) ; chrX:g.17726153G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17726153G>A , CM000685.2:g.17726153G>A	GRCh38
NC_000023.10:g.17744273G>A , CM000685.1:g.17744273G>A	GRCh37
NC_000023.9:g.17654194G>A	NCBI36
NG_011553.2:g.355734G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615422.2:n.2442G>A
ENST00000690608.1:n.1004G>A
ENST00000676302.1:c.2047G>A MANE Select	ENSP00000502262.1:p.Val683Met
ENST00000380060.7:c.1984G>A	ENSP00000369400.3:p.Val662Met
ENST00000398097.7:c.1516G>A	ENSP00000381170.3:p.Val506Met
ENST00000615422.1:c.1507G>A	ENSP00000480113.1:p.Val503Met
ENST00000617601.4:c.1435G>A	ENSP00000478433.1:p.Val479Met
NM_001136024.3:c.1516G>A	NP_001129496.1:p.Val506Met
NM_001291867.1:c.2047G>A	NP_001278796.1:p.Val683Met
NM_001291868.1:c.1453G>A	NP_001278797.1:p.Val485Met
NM_198270.3:c.1984G>A	NP_938011.1:p.Val662Met
XM_011545528.1:c.1099G>A	XP_011543830.1:p.Val367Met
XM_011545528.2:c.1099G>A	XP_011543830.1:p.Val367Met
NM_001136024.4:c.1516G>A	NP_001129496.1:p.Val506Met
NM_001291867.2:c.2047G>A MANE Select	NP_001278796.1:p.Val683Met
NM_001291868.2:c.1453G>A	NP_001278797.1:p.Val485Met
NM_198270.4:c.1984G>A	NP_938011.1:p.Val662Met