Canonical Allele Identifier: CA367216294

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37888345C>G , CM000669.2:g.37888345C>G GRCh38
NC_000007.13:g.37927947C>G , CM000669.1:g.37927947C>G GRCh37
NC_000007.12:g.37894472C>G NCBI36
NG_015893.1:g.44749C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000199447.9:c.1316C>G (NME8) MANE Select ENSP00000199447.4:p.Thr439Ser
ENST00000199447.8:c.1316C>G (NME8) ENSP00000199447.4:p.Thr439Ser
ENST00000426106.1:c.*262C>G (NME8) ENSP00000408841.1:n.*262C>G
ENST00000440017.5:c.1316C>G (NME8) ENSP00000397063.1:p.Thr439Ser
ENST00000476620.1:c.-38+31000C>G (EPDR1) ENSP00000425858.1:n.-38+31000C>G
NM_016616.4:c.1316C>G (NME8) NP_057700.3:p.Thr439Ser
NM_016616.5:c.1316C>G (NME8) MANE Select NP_057700.3:p.Thr439Ser