Canonical Allele Identifier: CA14465488
Gene: NME1 HGNC NCBI
NME1-NME2 HGNC NCBI
dbSNP:
2302254
gnomAD v2:
17:49230900 C / T
gnomAD v3:
17:51153539 C / T
gnomAD v4:
chr17-51153539-C-T
Joint Max Group AF 0.29058924 (AFR)
Genomes Max Group AF 0.29058924 (AFR)
Exomes Max Group AF 0.07036201 (NFE)
MyVariant.info:
GRCh38 chr17:g.51153539C>T
GRCh37 chr17:g.49230900C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.51153539C>T , CM000679.2:g.51153539C>T GRCh38
NC_000017.10:g.49230900C>T , CM000679.1:g.49230900C>T GRCh37
NC_000017.9:g.46585899C>T NCBI36
NG_021169.1:g.4981C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393196.7:c.-128C>T (NME1) ENSP00000376892.3:n.-128C>T
NM_001018136.2:c.-128C>T (NME1-NME2) NP_001018146.1:n.-128C>T
NR_037149.1:n.4C>T (NME1-NME2)
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