Canonical Allele Identifier: CA340053
Gene: NME8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3256
ClinVar RCV Id: RCV000003412
dbSNP Id: rs121918300

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37888306T>A , CM000669.2:g.37888306T>A GRCh38
NC_000007.12:g.37894433T>A NCBI36
NC_000007.13:g.37927908T>A , CM000669.1:g.37927908T>A GRCh37
NG_015893.1:g.44710T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000199447.8:c.1277T>A ENSP00000199447.4:p.Leu426Ter
ENST00000426106.1:c.*223T>A ENSP00000408841.1:p.=
ENST00000440017.5:c.1277T>A ENSP00000397063.1:p.Leu426Ter
ENST00000476620.1:c.-38+30961T>A ENSP00000425858.1:p.=
NM_016616.4:c.1277T>A NP_057700.3:p.Leu426Ter