Canonical Allele Identifier: CA367216195

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37888301C>G , CM000669.2:g.37888301C>G GRCh38
NC_000007.13:g.37927903C>G , CM000669.1:g.37927903C>G GRCh37
NC_000007.12:g.37894428C>G NCBI36
NG_015893.1:g.44705C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000199447.9:c.1272C>G (NME8) MANE Select ENSP00000199447.4:p.Asp424Glu
ENST00000199447.8:c.1272C>G (NME8) ENSP00000199447.4:p.Asp424Glu
ENST00000426106.1:c.*218C>G (NME8) ENSP00000408841.1:n.*218C>G
ENST00000440017.5:c.1272C>G (NME8) ENSP00000397063.1:p.Asp424Glu
ENST00000476620.1:c.-38+30956C>G (EPDR1) ENSP00000425858.1:n.-38+30956C>G
NM_016616.4:c.1272C>G (NME8) NP_057700.3:p.Asp424Glu
NM_016616.5:c.1272C>G (NME8) MANE Select NP_057700.3:p.Asp424Glu