Canonical Allele Identifier: CA2606949746

Gene: P3H2

Linked Data

• dbSNP Id: rs2108925079
• gnomAD v3: 3-189995697-A-G
• gnomAD v4: 3-189995697-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995697A>G , CM000665.2:g.189995697A>G	GRCh38
NC_000003.11:g.189713486A>G , CM000665.1:g.189713486A>G	GRCh37
NC_000003.10:g.191196180A>G	NCBI36
NG_031929.1:g.131741T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.481-255T>C MANE Select	ENSP00000316881.5:n.481-255T>C
ENST00000319332.9:c.481-255T>C	ENSP00000316881.5:n.481-255T>C
ENST00000426003.1:c.-63-255T>C	ENSP00000394326.1:n.-63-255T>C
ENST00000427335.6:c.-63-255T>C	ENSP00000408947.2:n.-63-255T>C
ENST00000444866.5:c.-63-255T>C	ENSP00000391374.1:n.-63-255T>C
NM_001134418.1:c.-63-255T>C	NP_001127890.1:n.-63-255T>C
NM_018192.3:c.481-255T>C	NP_060662.2:n.481-255T>C
XM_011512955.1:c.-63-255T>C	XP_011511257.1:n.-63-255T>C
NM_018192.4:c.481-255T>C MANE Select	NP_060662.2:n.481-255T>C
NM_001134418.2:c.-63-255T>C	NP_001127890.1:n.-63-255T>C