Canonical Allele Identifier: CA412367586

Gene: NHS

Linked Data

• ClinVar Variation Id: 463042
• ClinVar RCV Id: RCV000539510
• dbSNP Id: rs1556039901
• MyVariant Identifiers: chrX:g.17746382A>T (hg19) ; chrX:g.17728262A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17728262A>T , CM000685.2:g.17728262A>T	GRCh38
NC_000023.10:g.17746382A>T , CM000685.1:g.17746382A>T	GRCh37
NC_000023.9:g.17656303A>T	NCBI36
NG_011553.2:g.357843A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615422.2:n.4551A>T
ENST00000690608.1:n.3113A>T
ENST00000676302.1:c.4156A>T MANE Select	ENSP00000502262.1:p.Lys1386Ter
ENST00000380060.7:c.4093A>T	ENSP00000369400.3:p.Lys1365Ter
ENST00000398097.7:c.3625A>T	ENSP00000381170.3:p.Lys1209Ter
ENST00000615422.1:c.3616A>T	ENSP00000480113.1:p.Lys1206Ter
ENST00000617601.4:c.3544A>T	ENSP00000478433.1:p.Lys1182Ter
NM_001136024.3:c.3625A>T	NP_001129496.1:p.Lys1209Ter
NM_001291867.1:c.4156A>T	NP_001278796.1:p.Lys1386Ter
NM_001291868.1:c.3562A>T	NP_001278797.1:p.Lys1188Ter
NM_198270.3:c.4093A>T	NP_938011.1:p.Lys1365Ter
XM_011545528.1:c.3208A>T	XP_011543830.1:p.Lys1070Ter
XM_011545528.2:c.3208A>T	XP_011543830.1:p.Lys1070Ter
NM_001136024.4:c.3625A>T	NP_001129496.1:p.Lys1209Ter
NM_001291867.2:c.4156A>T MANE Select	NP_001278796.1:p.Lys1386Ter
NM_001291868.2:c.3562A>T	NP_001278797.1:p.Lys1188Ter
NM_198270.4:c.4093A>T	NP_938011.1:p.Lys1365Ter