Canonical Allele Identifier: CA367216296
Gene: NME8 HGNC NCBI
EPDR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.37927949G>C (hg19) chr7:g.37888347G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37888347G>C , CM000669.2:g.37888347G>C GRCh38
NC_000007.13:g.37927949G>C , CM000669.1:g.37927949G>C GRCh37
NC_000007.12:g.37894474G>C NCBI36
NG_015893.1:g.44751G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000199447.9:c.1318G>C (NME8) MANE Select ENSP00000199447.4:p.Ala440Pro
ENST00000199447.8:c.1318G>C (NME8) ENSP00000199447.4:p.Ala440Pro
ENST00000426106.1:c.*264G>C (NME8) ENSP00000408841.1:n.*264G>C
ENST00000440017.5:c.1318G>C (NME8) ENSP00000397063.1:p.Ala440Pro
ENST00000476620.1:c.-38+31002G>C (EPDR1) ENSP00000425858.1:n.-38+31002G>C
NM_016616.4:c.1318G>C (NME8) NP_057700.3:p.Ala440Pro
NM_016616.5:c.1318G>C (NME8) MANE Select NP_057700.3:p.Ala440Pro
Search 100 bp 5'
Search 100 bp 3'