Canonical Allele Identifier: CA355759684

Gene: P3H2

Linked Data

• MyVariant Identifiers: chr3:g.189713081T>A (hg19) ; chr3:g.189995292T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995292T>A , CM000665.2:g.189995292T>A	GRCh38
NC_000003.11:g.189713081T>A , CM000665.1:g.189713081T>A	GRCh37
NC_000003.10:g.191195775T>A	NCBI36
NG_031929.1:g.132146A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.631A>T MANE Select	ENSP00000316881.5:p.Met211Leu
ENST00000319332.9:c.631A>T	ENSP00000316881.5:p.Met211Leu
ENST00000426003.1:c.88A>T	ENSP00000394326.1:p.Met30Leu
ENST00000427335.6:c.88A>T	ENSP00000408947.2:p.Met30Leu
ENST00000444866.5:c.88A>T	ENSP00000391374.1:p.Met30Leu
NM_001134418.1:c.88A>T	NP_001127890.1:p.Met30Leu
NM_018192.3:c.631A>T	NP_060662.2:p.Met211Leu
XM_011512955.1:c.88A>T	XP_011511257.1:p.Met30Leu
NM_018192.4:c.631A>T MANE Select	NP_060662.2:p.Met211Leu
NM_001134418.2:c.88A>T	NP_001127890.1:p.Met30Leu