Canonical Allele Identifier: CA4222145

Gene: NME8 EPDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37862068C>T , CM000669.2:g.37862068C>T	GRCh38
NC_000007.13:g.37901670C>T , CM000669.1:g.37901670C>T	GRCh37
NC_000007.12:g.37868195C>T	NCBI36
NG_015893.1:g.18472C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016616.5:c.311C>T (NME8) MANE Select	NP_057700.3:p.Pro104Leu
ENST00000199447.9:c.311C>T (NME8) MANE Select	ENSP00000199447.4:p.Pro104Leu
NM_016616.4:c.311C>T (NME8)	NP_057700.3:p.Pro104Leu
ENST00000199447.8:c.311C>T (NME8)	ENSP00000199447.4:p.Pro104Leu
ENST00000426106.1:c.105+4723C>T (NME8)	ENSP00000408841.1:n.105+4723C>T
ENST00000440017.5:c.311C>T (NME8)	ENSP00000397063.1:p.Pro104Leu
ENST00000444718.5:c.146C>T (NME8)	ENSP00000390596.1:p.Pro49Leu
ENST00000455500.5:c.146C>T (NME8)	ENSP00000390047.1:p.Pro49Leu
ENST00000476620.1:c.-38+4723C>T (EPDR1)	ENSP00000425858.1:n.-38+4723C>T