Canonical Allele Identifier: CA224378

Gene: NHS

Linked Data

• ClinVar Variation Id: 96643
• ClinVar RCV Id: RCV000082805 ; RCV000723670 ; RCV002336241 ; RCV002514452
• dbSNP Id: rs398124610
• ExAC: X:17394393 C / T
• gnomAD v2: X-17394393-C-T
• gnomAD v3: X-17376270-C-T
• gnomAD v4: X-17376270-C-T
• MyVariant Identifiers: chrX:g.17394393C>T (hg19) ; chrX:g.17376270C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17376270C>T , CM000685.2:g.17376270C>T	GRCh38
NC_000023.10:g.17394393C>T , CM000685.1:g.17394393C>T	GRCh37
NC_000023.9:g.17304314C>T	NCBI36
NG_011553.2:g.5851C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000676302.1:c.513C>T MANE Select	ENSP00000502262.1:p.Leu171=
ENST00000380060.7:c.513C>T	ENSP00000369400.3:p.Leu171=
NM_001291867.1:c.513C>T	NP_001278796.1:p.Leu171=
NM_198270.3:c.513C>T	NP_938011.1:p.Leu171=
NM_001291867.2:c.513C>T MANE Select	NP_001278796.1:p.Leu171=
NM_198270.4:c.513C>T	NP_938011.1:p.Leu171=