Canonical Allele Identifier: CA121311

Gene: NHS

Linked Data

• ClinVar Variation Id: 11028
• ClinVar RCV Id: RCV000011775
• dbSNP Id: rs786205257
• MyVariant Identifiers: chrX:g.17739559A>G (hg19) ; chrX:g.17721439A>G (hg38)
• PubMed: PMID:458526 ; PMID:16736028

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17721439A>G , CM000685.2:g.17721439A>G	GRCh38
NC_000023.10:g.17739559A>G , CM000685.1:g.17739559A>G	GRCh37
NC_000023.9:g.17649480A>G	NCBI36
NG_011553.2:g.351020A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615422.2:n.1311-2A>G
ENST00000690213.1:n.131-2A>G
ENST00000676302.1:c.916-2A>G MANE Select	ENSP00000502262.1:n.916-2A>G
ENST00000380060.7:c.853-2A>G	ENSP00000369400.3:n.853-2A>G
ENST00000398097.7:c.385-2A>G	ENSP00000381170.3:n.385-2A>G
ENST00000485305.1:n.145-2A>G
ENST00000615422.1:c.376-2A>G	ENSP00000480113.1:n.376-2A>G
ENST00000617601.4:c.304-2A>G	ENSP00000478433.1:n.304-2A>G
NM_001136024.3:c.385-2A>G	NP_001129496.1:n.385-2A>G
NM_001291867.1:c.916-2A>G	NP_001278796.1:n.916-2A>G
NM_001291868.1:c.322-2A>G	NP_001278797.1:n.322-2A>G
NM_198270.3:c.853-2A>G	NP_938011.1:n.853-2A>G
XM_011545528.1:c.-33-2A>G	XP_011543830.1:n.-33-2A>G
XM_011545528.2:c.-33-2A>G	XP_011543830.1:n.-33-2A>G
NM_001136024.4:c.385-2A>G	NP_001129496.1:n.385-2A>G
NM_001291867.2:c.916-2A>G MANE Select	NP_001278796.1:n.916-2A>G
NM_001291868.2:c.322-2A>G	NP_001278797.1:n.322-2A>G
NM_198270.4:c.853-2A>G	NP_938011.1:n.853-2A>G