Canonical Allele Identifier: CA367216148

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37888280A>T , CM000669.2:g.37888280A>T GRCh38
NC_000007.13:g.37927882A>T , CM000669.1:g.37927882A>T GRCh37
NC_000007.12:g.37894407A>T NCBI36
NG_015893.1:g.44684A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000199447.9:c.1251A>T (NME8) MANE Select ENSP00000199447.4:p.Leu417Phe
ENST00000199447.8:c.1251A>T (NME8) ENSP00000199447.4:p.Leu417Phe
ENST00000426106.1:c.*197A>T (NME8) ENSP00000408841.1:n.*197A>T
ENST00000440017.5:c.1251A>T (NME8) ENSP00000397063.1:p.Leu417Phe
ENST00000476620.1:c.-38+30935A>T (EPDR1) ENSP00000425858.1:n.-38+30935A>T
NM_016616.4:c.1251A>T (NME8) NP_057700.3:p.Leu417Phe
NM_016616.5:c.1251A>T (NME8) MANE Select NP_057700.3:p.Leu417Phe