Canonical Allele Identifier: CA1700779061

Linked Data

dbSNP Id: rs1332147109

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37888259C>T , CM000669.2:g.37888259C>T GRCh38
NC_000007.13:g.37927861C>T , CM000669.1:g.37927861C>T GRCh37
NC_000007.12:g.37894386C>T NCBI36
NG_015893.1:g.44663C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000199447.9:c.1248-18C>T (NME8) MANE Select ENSP00000199447.4:n.1248-18C>T
ENST00000199447.8:c.1248-18C>T (NME8) ENSP00000199447.4:n.1248-18C>T
ENST00000426106.1:c.*194-18C>T (NME8) ENSP00000408841.1:n.*194-18C>T
ENST00000440017.5:c.1248-18C>T (NME8) ENSP00000397063.1:n.1248-18C>T
ENST00000476620.1:c.-38+30914C>T (EPDR1) ENSP00000425858.1:n.-38+30914C>T
NM_016616.4:c.1248-18C>T (NME8) NP_057700.3:n.1248-18C>T
NM_016616.5:c.1248-18C>T (NME8) MANE Select NP_057700.3:n.1248-18C>T