Canonical Allele Identifier: CA2682430326
Gene: NME8 HGNC NCBI
EPDR1 HGNC NCBI

Linked Data

gnomAD v4: 7-37888266-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37888266C>T , CM000669.2:g.37888266C>T GRCh38
NC_000007.13:g.37927868C>T , CM000669.1:g.37927868C>T GRCh37
NC_000007.12:g.37894393C>T NCBI36
NG_015893.1:g.44670C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000199447.9:c.1248-11C>T (NME8) MANE Select ENSP00000199447.4:n.1248-11C>T
ENST00000199447.8:c.1248-11C>T (NME8) ENSP00000199447.4:n.1248-11C>T
ENST00000426106.1:c.*194-11C>T (NME8) ENSP00000408841.1:n.*194-11C>T
ENST00000440017.5:c.1248-11C>T (NME8) ENSP00000397063.1:n.1248-11C>T
ENST00000476620.1:c.-38+30921C>T (EPDR1) ENSP00000425858.1:n.-38+30921C>T
NM_016616.4:c.1248-11C>T (NME8) NP_057700.3:n.1248-11C>T
NM_016616.5:c.1248-11C>T (NME8) MANE Select NP_057700.3:n.1248-11C>T
Search 100 bp 5'
Search 100 bp 3'