Canonical Allele Identifier: CA339955571

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42752314T>G , CM000663.2:g.42752314T>G	GRCh38
NC_000001.10:g.43217985T>G , CM000663.1:g.43217985T>G	GRCh37
NC_000001.9:g.42990572T>G	NCBI36
NG_008123.1:g.19771A>C , LRG_5:g.19771A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022356.4:c.1529A>C MANE Select	NP_071751.3:p.Asn510Thr
ENST00000296388.10:c.1529A>C MANE Select	ENSP00000296388.5:p.Asn510Thr
NM_001146289.1:c.1529A>C , LRG_5t2:c.1529A>C	NP_001139761.1:p.Asn510Thr
NM_001146289.2:c.1529A>C	NP_001139761.1:p.Asn510Thr
NM_001243246.1:c.1529A>C , LRG_5t3:c.1529A>C	NP_001230175.1:p.Asn510Thr
NM_001243246.2:c.1529A>C	NP_001230175.1:p.Asn510Thr
NM_022356.3:c.1529A>C , LRG_5t1:c.1529A>C	NP_071751.3:p.Asn510Thr
ENST00000236040.8:c.1529A>C	ENSP00000236040.4:p.Asn510Thr
ENST00000296388.9:c.1529A>C	ENSP00000296388.5:p.Asn510Thr
ENST00000397054.7:c.1529A>C	ENSP00000380245.3:p.Asn510Thr
ENST00000431412.3:c.351A>C
ENST00000447502.2:n.303A>C
ENST00000460031.5:n.1721A>C
ENST00000481465.3:n.252A>C
ENST00000495874.5:n.1809A>C
XM_005271110.2:c.521A>C	XP_005271167.1:p.Asn174Thr
XM_011541947.1:c.554A>C	XP_011540249.1:p.Asn185Thr
XM_011541948.1:c.554A>C	XP_011540250.1:p.Asn185Thr
XM_011541949.1:c.551A>C	XP_011540251.1:p.Asn184Thr
XM_017002051.2:c.554A>C	XP_016857540.1:p.Asn185Thr
XM_017002052.2:c.551A>C	XP_016857541.1:p.Asn184Thr
XR_946739.2:n.1654A>C