Canonical Allele Identifier: CA367216137

Linked Data

gnomAD v4: 7-37888276-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37888276G>A , CM000669.2:g.37888276G>A GRCh38
NC_000007.13:g.37927878G>A , CM000669.1:g.37927878G>A GRCh37
NC_000007.12:g.37894403G>A NCBI36
NG_015893.1:g.44680G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000199447.9:c.1248-1G>A (NME8) MANE Select ENSP00000199447.4:n.1248-1G>A
ENST00000199447.8:c.1248-1G>A (NME8) ENSP00000199447.4:n.1248-1G>A
ENST00000426106.1:c.*194-1G>A (NME8) ENSP00000408841.1:n.*194-1G>A
ENST00000440017.5:c.1248-1G>A (NME8) ENSP00000397063.1:n.1248-1G>A
ENST00000476620.1:c.-38+30931G>A (EPDR1) ENSP00000425858.1:n.-38+30931G>A
NM_016616.4:c.1248-1G>A (NME8) NP_057700.3:n.1248-1G>A
NM_016616.5:c.1248-1G>A (NME8) MANE Select NP_057700.3:n.1248-1G>A