Canonical Allele Identifier: CA367216317
Gene: NME8 HGNC NCBI
EPDR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.37927958G>T (hg19) chr7:g.37888356G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37888356G>T , CM000669.2:g.37888356G>T GRCh38
NC_000007.13:g.37927958G>T , CM000669.1:g.37927958G>T GRCh37
NC_000007.12:g.37894483G>T NCBI36
NG_015893.1:g.44760G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000199447.9:c.1327G>T (NME8) MANE Select ENSP00000199447.4:p.Glu443Ter
ENST00000199447.8:c.1327G>T (NME8) ENSP00000199447.4:p.Glu443Ter
ENST00000426106.1:c.*273G>T (NME8) ENSP00000408841.1:n.*273G>T
ENST00000440017.5:c.1327G>T (NME8) ENSP00000397063.1:p.Glu443Ter
ENST00000476620.1:c.-38+31011G>T (EPDR1) ENSP00000425858.1:n.-38+31011G>T
NM_016616.4:c.1327G>T (NME8) NP_057700.3:p.Glu443Ter
NM_016616.5:c.1327G>T (NME8) MANE Select NP_057700.3:p.Glu443Ter
Search 100 bp 5'
Search 100 bp 3'