Canonical Allele Identifier: CA157134490
Gene: NME8 HGNC NCBI
EPDR1 HGNC NCBI

Linked Data

dbSNP Id: rs967908182
gnomAD v2: 7-37927842-G-A
gnomAD v4: 7-37888240-G-A
MyVariant Identifiers: chr7:g.37927842G>A (hg19) chr7:g.37888240G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37888240G>A , CM000669.2:g.37888240G>A GRCh38
NC_000007.13:g.37927842G>A , CM000669.1:g.37927842G>A GRCh37
NC_000007.12:g.37894367G>A NCBI36
NG_015893.1:g.44644G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000199447.9:c.1248-37G>A (NME8) MANE Select ENSP00000199447.4:n.1248-37G>A
ENST00000199447.8:c.1248-37G>A (NME8) ENSP00000199447.4:n.1248-37G>A
ENST00000426106.1:c.*194-37G>A (NME8) ENSP00000408841.1:n.*194-37G>A
ENST00000440017.5:c.1248-37G>A (NME8) ENSP00000397063.1:n.1248-37G>A
ENST00000476620.1:c.-38+30895G>A (EPDR1) ENSP00000425858.1:n.-38+30895G>A
NM_016616.4:c.1248-37G>A (NME8) NP_057700.3:n.1248-37G>A
NM_016616.5:c.1248-37G>A (NME8) MANE Select NP_057700.3:n.1248-37G>A
Search 100 bp 5'
Search 100 bp 3'