Canonical Allele Identifier: CA4222275

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37865606A>G , CM000669.2:g.37865606A>G GRCh38
NC_000007.13:g.37905208A>G , CM000669.1:g.37905208A>G GRCh37
NC_000007.12:g.37871733A>G NCBI36
NG_015893.1:g.22010A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000199447.9:c.610A>G (NME8) MANE Select ENSP00000199447.4:p.Ile204Val
ENST00000199447.8:c.610A>G (NME8) ENSP00000199447.4:p.Ile204Val
ENST00000426106.1:c.105+8261A>G (NME8) ENSP00000408841.1:n.105+8261A>G
ENST00000440017.5:c.610A>G (NME8) ENSP00000397063.1:p.Ile204Val
ENST00000444718.5:c.445A>G (NME8) ENSP00000390596.1:p.Ile149Val
ENST00000476620.1:c.-38+8261A>G (EPDR1) ENSP00000425858.1:n.-38+8261A>G
NM_016616.4:c.610A>G (NME8) NP_057700.3:p.Ile204Val
NM_016616.5:c.610A>G (NME8) MANE Select NP_057700.3:p.Ile204Val