Canonical Allele Identifier: CA801839
Gene: P3H1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.42752532C>A
GRCh37 chr1:g.43218203C>A
gnomAD v2:
1:43218203 C / A
gnomAD v3:
1:42752532 C / A
gnomAD v4:
chr1-42752532-C-A
Joint Max Group AF 0.00870388 (AFR)
Genomes Max Group AF 0.00873055 (AFR)
Exomes Max Group AF 0.00815504 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42752532C>A , CM000663.2:g.42752532C>A GRCh38
NC_000001.10:g.43218203C>A , CM000663.1:g.43218203C>A GRCh37
NC_000001.9:g.42990790C>A NCBI36
NG_008123.1:g.19553G>T , LRG_5:g.19553G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296388.10:c.1473+5G>T MANE Select ENSP00000296388.5:n.1473+5G>T
ENST00000236040.8:c.1473+5G>T ENSP00000236040.4:n.1473+5G>T
ENST00000296388.9:c.1473+5G>T ENSP00000296388.5:n.1473+5G>T
ENST00000397054.7:c.1473+5G>T ENSP00000380245.3:n.1473+5G>T
ENST00000431412.3:c.295+5G>T
ENST00000447502.2:n.247+5G>T
ENST00000460031.5:n.1665+5G>T
ENST00000481465.3:n.196+5G>T
ENST00000495874.5:n.1753+5G>T
NM_001146289.1:c.1473+5G>T , LRG_5t2:c.1473+5G>T NP_001139761.1:n.1473+5G>T
NM_001243246.1:c.1473+5G>T , LRG_5t3:c.1473+5G>T NP_001230175.1:n.1473+5G>T
NM_022356.3:c.1473+5G>T , LRG_5t1:c.1473+5G>T NP_071751.3:n.1473+5G>T
XM_005271110.2:c.465+5G>T XP_005271167.1:n.465+5G>T
XM_011541947.1:c.498+5G>T XP_011540249.1:n.498+5G>T
XM_011541948.1:c.498+5G>T XP_011540250.1:n.498+5G>T
XM_011541949.1:c.495+5G>T XP_011540251.1:n.495+5G>T
XM_017002051.2:c.498+5G>T XP_016857540.1:n.498+5G>T
XM_017002052.2:c.495+5G>T XP_016857541.1:n.495+5G>T
XR_946739.2:n.1598+5G>T
NM_022356.4:c.1473+5G>T MANE Select NP_071751.3:n.1473+5G>T
NM_001146289.2:c.1473+5G>T NP_001139761.1:n.1473+5G>T
NM_001243246.2:c.1473+5G>T NP_001230175.1:n.1473+5G>T
Search 100 bp 5'
Search 100 bp 3'