Canonical Allele Identifier: CA16621266
Gene: NHS HGNC NCBI

Linked Data

ClinVar Variation Id: 421384
dbSNP Id: rs1064795101

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.17376327G>A , CM000685.2:g.17376327G>A GRCh38
NC_000023.10:g.17394450G>A , CM000685.1:g.17394450G>A GRCh37
NC_000023.9:g.17304371G>A NCBI36
NG_011553.2:g.5908G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000676302.1:c.565+5G>A MANE Select ENSP00000502262.1:n.565+5G>A
ENST00000380060.7:c.565+5G>A ENSP00000369400.3:n.565+5G>A
NM_001291867.1:c.565+5G>A NP_001278796.1:n.565+5G>A
NM_198270.3:c.565+5G>A NP_938011.1:n.565+5G>A
NM_001291867.2:c.565+5G>A MANE Select NP_001278796.1:n.565+5G>A
NM_198270.4:c.565+5G>A NP_938011.1:n.565+5G>A