Canonical Allele Identifier: CA367216338
Gene: NME8 HGNC NCBI
EPDR1 HGNC NCBI

Linked Data

gnomAD v4: 7-37888365-C-T
MyVariant Identifiers: chr7:g.37927967C>T (hg19) chr7:g.37888365C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37888365C>T , CM000669.2:g.37888365C>T GRCh38
NC_000007.13:g.37927967C>T , CM000669.1:g.37927967C>T GRCh37
NC_000007.12:g.37894492C>T NCBI36
NG_015893.1:g.44769C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000199447.9:c.1336C>T (NME8) MANE Select ENSP00000199447.4:p.His446Tyr
ENST00000199447.8:c.1336C>T (NME8) ENSP00000199447.4:p.His446Tyr
ENST00000426106.1:c.*282C>T (NME8) ENSP00000408841.1:n.*282C>T
ENST00000440017.5:c.1336C>T (NME8) ENSP00000397063.1:p.His446Tyr
ENST00000476620.1:c.-38+31020C>T (EPDR1) ENSP00000425858.1:n.-38+31020C>T
NM_016616.4:c.1336C>T (NME8) NP_057700.3:p.His446Tyr
NM_016616.5:c.1336C>T (NME8) MANE Select NP_057700.3:p.His446Tyr
Search 100 bp 5'
Search 100 bp 3'