Canonical Allele Identifier: CA4222179
Gene: NME8 HGNC NCBI
EPDR1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.37863409C>T
GRCh37 chr7:g.37903011C>T
Revel Score:
ENST00000199447 (MANE Select) 0.057
ENST00000455500 0.057
ENST00000444718 0.057
ENST00000440017 0.057
gnomAD v2:
7:37903011 C / T
gnomAD v3:
7:37863409 C / T
gnomAD v4:
chr7-37863409-C-T
Joint Max Group AF 0.00051811 (AMR)
Genomes Max Group AF 0.00005293 (AMR)
Exomes Max Group AF 0.0006367 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37863409C>T , CM000669.2:g.37863409C>T GRCh38
NC_000007.13:g.37903011C>T , CM000669.1:g.37903011C>T GRCh37
NC_000007.12:g.37869536C>T NCBI36
NG_015893.1:g.19813C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000199447.9:c.401C>T (NME8) MANE Select ENSP00000199447.4:p.Pro134Leu
ENST00000199447.8:c.401C>T (NME8) ENSP00000199447.4:p.Pro134Leu
ENST00000426106.1:c.105+6064C>T (NME8) ENSP00000408841.1:n.105+6064C>T
ENST00000440017.5:c.401C>T (NME8) ENSP00000397063.1:p.Pro134Leu
ENST00000444718.5:c.236C>T (NME8) ENSP00000390596.1:p.Pro79Leu
ENST00000455500.5:c.236C>T (NME8) ENSP00000390047.1:p.Pro79Leu
ENST00000476620.1:c.-38+6064C>T (EPDR1) ENSP00000425858.1:n.-38+6064C>T
NM_016616.4:c.401C>T (NME8) NP_057700.3:p.Pro134Leu
NM_016616.5:c.401C>T (NME8) MANE Select NP_057700.3:p.Pro134Leu
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