Canonical Allele Identifier: CA393120578
Gene: PML HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.74044292T>G
GRCh37 chr15:g.74336633T>G
Revel Score:
ENST00000268058 (MANE Select) 0.023
ENST00000417341 0.023
ENST00000418568 0.023
gnomAD v3:
15:74044292 T / G
gnomAD v4:
chr15-74044292-T-G
Joint Max Group AF 0.00000443 (AFR)
Genomes Max Group AF 0.00001973 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
dbSNP:
5742915
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74044292T>G , CM000677.2:g.74044292T>G GRCh38
NC_000015.9:g.74336633T>G , CM000677.1:g.74336633T>G GRCh37
NC_000015.8:g.72123686T>G NCBI36
NG_029036.1:g.54620T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268058.8:c.1933T>G MANE Select ENSP00000268058.3:p.Phe645Val
ENST00000268058.7:c.1933T>G ENSP00000268058.3:p.Phe645Val
ENST00000565898.5:c.1789T>G ENSP00000455838.1:p.Phe597Val
NM_033238.2:c.1933T>G NP_150241.2:p.Phe645Val
NM_033238.3:c.1933T>G MANE Select NP_150241.2:p.Phe645Val
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