Canonical Allele Identifier: CA367216285

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37888342A>C , CM000669.2:g.37888342A>C GRCh38
NC_000007.13:g.37927944A>C , CM000669.1:g.37927944A>C GRCh37
NC_000007.12:g.37894469A>C NCBI36
NG_015893.1:g.44746A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000199447.9:c.1313A>C (NME8) MANE Select ENSP00000199447.4:p.Glu438Ala
ENST00000199447.8:c.1313A>C (NME8) ENSP00000199447.4:p.Glu438Ala
ENST00000426106.1:c.*259A>C (NME8) ENSP00000408841.1:n.*259A>C
ENST00000440017.5:c.1313A>C (NME8) ENSP00000397063.1:p.Glu438Ala
ENST00000476620.1:c.-38+30997A>C (EPDR1) ENSP00000425858.1:n.-38+30997A>C
NM_016616.4:c.1313A>C (NME8) NP_057700.3:p.Glu438Ala
NM_016616.5:c.1313A>C (NME8) MANE Select NP_057700.3:p.Glu438Ala