Canonical Allele Identifier: CA21251915

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42767028C>A , CM000663.2:g.42767028C>A	GRCh38
NC_000001.10:g.43232699C>A , CM000663.1:g.43232699C>A	GRCh37
NC_000001.9:g.43005286C>A	NCBI36
NG_008123.1:g.5057G>T , LRG_5:g.5057G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022356.4:c.-57G>T MANE Select	NP_071751.3:n.-57G>T
ENST00000296388.10:c.-57G>T MANE Select	ENSP00000296388.5:n.-57G>T
NM_001146289.1:c.-57G>T , LRG_5t2:c.-57G>T	NP_001139761.1:n.-57G>T
NM_001146289.2:c.-57G>T	NP_001139761.1:n.-57G>T
NM_001243246.1:c.-57G>T , LRG_5t3:c.-57G>T	NP_001230175.1:n.-57G>T
NM_001243246.2:c.-57G>T	NP_001230175.1:n.-57G>T
NM_022356.3:c.-57G>T , LRG_5t1:c.-57G>T	NP_071751.3:n.-57G>T
ENST00000397054.7:c.-57G>T	ENSP00000380245.3:n.-57G>T
XR_946739.1:n.1G>T
XR_946739.2:n.1G>T