Canonical Allele Identifier: CA1700779070

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000199447.9:c.1251A= (NME8) MANE Select ENSP00000199447.4:p.Leu417=
ENST00000199447.8:c.1251A= (NME8) ENSP00000199447.4:p.Leu417=
ENST00000426106.1:c.*197A= (NME8) ENSP00000408841.1:n.*197A=
ENST00000440017.5:c.1251A= (NME8) ENSP00000397063.1:p.Leu417=
ENST00000476620.1:c.-38+30935A= (EPDR1) ENSP00000425858.1:n.-38+30935A=
NM_016616.4:c.1251A= (NME8) NP_057700.3:p.Leu417=
NM_016616.5:c.1251A= (NME8) MANE Select NP_057700.3:p.Leu417=