Canonical Allele Identifier: CA4222020

Linked Data

ClinVar Variation Id: 260760
dbSNP Id: rs746181533
gnomAD v2: 7-37889916-T-G
gnomAD v3: 7-37850314-T-G
gnomAD v4: 7-37850314-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37850314T>G , CM000669.2:g.37850314T>G GRCh38
NC_000007.13:g.37889916T>G , CM000669.1:g.37889916T>G GRCh37
NC_000007.12:g.37856441T>G NCBI36
NG_015893.1:g.6718T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000199447.9:c.33+15T>G (NME8) MANE Select ENSP00000199447.4:n.33+15T>G
ENST00000199447.8:c.33+15T>G (NME8) ENSP00000199447.4:n.33+15T>G
ENST00000426106.1:c.33+15T>G (NME8) ENSP00000408841.1:n.33+15T>G
ENST00000440017.5:c.33+15T>G (NME8) ENSP00000397063.1:n.33+15T>G
ENST00000444718.5:c.33+15T>G (NME8) ENSP00000390596.1:n.33+15T>G
ENST00000455500.5:c.33+15T>G (NME8) ENSP00000390047.1:n.33+15T>G
ENST00000476620.1:c.-109-6960T>G (EPDR1) ENSP00000425858.1:n.-109-6960T>G
NM_016616.4:c.33+15T>G (NME8) NP_057700.3:n.33+15T>G
NM_016616.5:c.33+15T>G (NME8) MANE Select NP_057700.3:n.33+15T>G