Canonical Allele Identifier: CA4222475
Gene: NME8 HGNC NCBI
EPDR1 HGNC NCBI

Linked Data

dbSNP Id: rs772563164
ExAC: 7:37927841 T / C
gnomAD v2: 7-37927841-T-C
gnomAD v4: 7-37888239-T-C
MyVariant Identifiers: chr7:g.37927841T>C (hg19) chr7:g.37888239T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37888239T>C , CM000669.2:g.37888239T>C GRCh38
NC_000007.13:g.37927841T>C , CM000669.1:g.37927841T>C GRCh37
NC_000007.12:g.37894366T>C NCBI36
NG_015893.1:g.44643T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000199447.9:c.1248-38T>C (NME8) MANE Select ENSP00000199447.4:n.1248-38T>C
ENST00000199447.8:c.1248-38T>C (NME8) ENSP00000199447.4:n.1248-38T>C
ENST00000426106.1:c.*194-38T>C (NME8) ENSP00000408841.1:n.*194-38T>C
ENST00000440017.5:c.1248-38T>C (NME8) ENSP00000397063.1:n.1248-38T>C
ENST00000476620.1:c.-38+30894T>C (EPDR1) ENSP00000425858.1:n.-38+30894T>C
NM_016616.4:c.1248-38T>C (NME8) NP_057700.3:n.1248-38T>C
NM_016616.5:c.1248-38T>C (NME8) MANE Select NP_057700.3:n.1248-38T>C
Search 100 bp 5'
Search 100 bp 3'