Canonical Allele Identifier: CA6417300
Gene: P3H3 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.6839304T>C
GRCh37 chr12:g.6948468T>C
Revel Score:
ENST00000451242 0.076
ENST00000396725 0.076
ENST00000290510 (MANE Select) 0.076
gnomAD v2:
12:6948468 T / C
gnomAD v3:
12:6839304 T / C
gnomAD v4:
chr12-6839304-T-C
Joint Max Group AF 0.3803056 (AFR)
Genomes Max Group AF 0.37908632 (AFR)
Exomes Max Group AF 0.37833677 (AFR)
dbSNP:
1129649
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6839304T>C , CM000674.2:g.6839304T>C GRCh38
NC_000012.11:g.6948468T>C , CM000674.1:g.6948468T>C GRCh37
NC_000012.10:g.6818729T>C NCBI36
NG_009100.1:g.4094T>C
NG_033740.1:g.15932T>C
NG_009100.2:g.4094T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290510.10:c.2054T>C MANE Select ENSP00000478600.1:p.Ile685Thr
ENST00000290510.9:c.2054T>C ENSP00000478600.1:p.Ile685Thr
ENST00000536140.5:n.2684T>C
ENST00000612048.4:n.1587T>C
NM_014262.4:c.2054T>C NP_055077.2:p.Ile685Thr
NM_014262.5:c.2054T>C MANE Select NP_055077.2:p.Ile685Thr
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