Canonical Allele Identifier: CA367216198

Linked Data

gnomAD v4: 7-37888302-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37888302A>G , CM000669.2:g.37888302A>G GRCh38
NC_000007.13:g.37927904A>G , CM000669.1:g.37927904A>G GRCh37
NC_000007.12:g.37894429A>G NCBI36
NG_015893.1:g.44706A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000199447.9:c.1273A>G (NME8) MANE Select ENSP00000199447.4:p.Ser425Gly
ENST00000199447.8:c.1273A>G (NME8) ENSP00000199447.4:p.Ser425Gly
ENST00000426106.1:c.*219A>G (NME8) ENSP00000408841.1:n.*219A>G
ENST00000440017.5:c.1273A>G (NME8) ENSP00000397063.1:p.Ser425Gly
ENST00000476620.1:c.-38+30957A>G (EPDR1) ENSP00000425858.1:n.-38+30957A>G
NM_016616.4:c.1273A>G (NME8) NP_057700.3:p.Ser425Gly
NM_016616.5:c.1273A>G (NME8) MANE Select NP_057700.3:p.Ser425Gly