Canonical Allele Identifier: CA13762031
Gene: P3H3 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.6838864T>G
GRCh37 chr12:g.6948028T>G
gnomAD v2:
12:6948028 T / G
gnomAD v3:
12:6838864 T / G
gnomAD v4:
chr12-6838864-T-G
Joint Max Group AF 0.30466365 (EAS)
Genomes Max Group AF 0.26880104 (EAS)
Exomes Max Group AF 0.30987138 (EAS)
dbSNP:
4963516
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6838864T>G , CM000674.2:g.6838864T>G GRCh38
NC_000012.11:g.6948028T>G , CM000674.1:g.6948028T>G GRCh37
NC_000012.10:g.6818289T>G NCBI36
NG_009100.1:g.3654T>G
NG_033740.1:g.15492T>G
NG_009100.2:g.3654T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000290510.10:c.1906-136T>G MANE Select ENSP00000478600.1:n.1906-136T>G
ENST00000290510.9:c.1906-136T>G ENSP00000478600.1:n.1906-136T>G
ENST00000536140.5:n.2536-136T>G
ENST00000612048.4:n.1439-136T>G
NM_014262.4:c.1906-136T>G NP_055077.2:n.1906-136T>G
NM_014262.5:c.1906-136T>G MANE Select NP_055077.2:n.1906-136T>G
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