Canonical Allele Identifier: CA2682430328

Linked Data

gnomAD v4: 7-37888270-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37888270T>C , CM000669.2:g.37888270T>C GRCh38
NC_000007.13:g.37927872T>C , CM000669.1:g.37927872T>C GRCh37
NC_000007.12:g.37894397T>C NCBI36
NG_015893.1:g.44674T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000199447.9:c.1248-7T>C (NME8) MANE Select ENSP00000199447.4:n.1248-7T>C
ENST00000199447.8:c.1248-7T>C (NME8) ENSP00000199447.4:n.1248-7T>C
ENST00000426106.1:c.*194-7T>C (NME8) ENSP00000408841.1:n.*194-7T>C
ENST00000440017.5:c.1248-7T>C (NME8) ENSP00000397063.1:n.1248-7T>C
ENST00000476620.1:c.-38+30925T>C (EPDR1) ENSP00000425858.1:n.-38+30925T>C
NM_016616.4:c.1248-7T>C (NME8) NP_057700.3:n.1248-7T>C
NM_016616.5:c.1248-7T>C (NME8) MANE Select NP_057700.3:n.1248-7T>C