Canonical Allele Identifier: CA355759920

Gene: P3H2

Linked Data

• gnomAD v4: 3-189995397-C-A
• COSMIC: COSM321379
• MyVariant Identifiers: chr3:g.189713186C>A (hg19) ; chr3:g.189995397C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995397C>A , CM000665.2:g.189995397C>A	GRCh38
NC_000003.11:g.189713186C>A , CM000665.1:g.189713186C>A	GRCh37
NC_000003.10:g.191195880C>A	NCBI36
NG_031929.1:g.132041G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.526G>T MANE Select	ENSP00000316881.5:p.Val176Leu
ENST00000319332.9:c.526G>T	ENSP00000316881.5:p.Val176Leu
ENST00000426003.1:c.-18G>T	ENSP00000394326.1:n.-18G>T
ENST00000427335.6:c.-18G>T	ENSP00000408947.2:n.-18G>T
ENST00000444866.5:c.-18G>T	ENSP00000391374.1:n.-18G>T
NM_001134418.1:c.-18G>T	NP_001127890.1:n.-18G>T
NM_018192.3:c.526G>T	NP_060662.2:p.Val176Leu
XM_011512955.1:c.-18G>T	XP_011511257.1:n.-18G>T
NM_018192.4:c.526G>T MANE Select	NP_060662.2:p.Val176Leu
NM_001134418.2:c.-18G>T	NP_001127890.1:n.-18G>T