Canonical Allele Identifier: CA355759834

Gene: P3H2

Linked Data

• MyVariant Identifiers: chr3:g.189713149A>C (hg19) ; chr3:g.189995360A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995360A>C , CM000665.2:g.189995360A>C	GRCh38
NC_000003.11:g.189713149A>C , CM000665.1:g.189713149A>C	GRCh37
NC_000003.10:g.191195843A>C	NCBI36
NG_031929.1:g.132078T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.563T>G MANE Select	ENSP00000316881.5:p.Ile188Ser
ENST00000319332.9:c.563T>G	ENSP00000316881.5:p.Ile188Ser
ENST00000426003.1:c.20T>G	ENSP00000394326.1:p.Ile7Ser
ENST00000427335.6:c.20T>G	ENSP00000408947.2:p.Ile7Ser
ENST00000444866.5:c.20T>G	ENSP00000391374.1:p.Ile7Ser
NM_001134418.1:c.20T>G	NP_001127890.1:p.Ile7Ser
NM_018192.3:c.563T>G	NP_060662.2:p.Ile188Ser
XM_011512955.1:c.20T>G	XP_011511257.1:p.Ile7Ser
NM_018192.4:c.563T>G MANE Select	NP_060662.2:p.Ile188Ser
NM_001134418.2:c.20T>G	NP_001127890.1:p.Ile7Ser