Canonical Allele Identifier: CA355759919
Gene: P3H2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.189713185A>C (hg19) chr3:g.189995396A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.189995396A>C , CM000665.2:g.189995396A>C GRCh38
NC_000003.11:g.189713185A>C , CM000665.1:g.189713185A>C GRCh37
NC_000003.10:g.191195879A>C NCBI36
NG_031929.1:g.132042T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000319332.10:c.527T>G MANE Select ENSP00000316881.5:p.Val176Gly
ENST00000319332.9:c.527T>G ENSP00000316881.5:p.Val176Gly
ENST00000426003.1:c.-17T>G ENSP00000394326.1:n.-17T>G
ENST00000427335.6:c.-17T>G ENSP00000408947.2:n.-17T>G
ENST00000444866.5:c.-17T>G ENSP00000391374.1:n.-17T>G
NM_001134418.1:c.-17T>G NP_001127890.1:n.-17T>G
NM_018192.3:c.527T>G NP_060662.2:p.Val176Gly
XM_011512955.1:c.-17T>G XP_011511257.1:n.-17T>G
NM_018192.4:c.527T>G MANE Select NP_060662.2:p.Val176Gly
NM_001134418.2:c.-17T>G NP_001127890.1:n.-17T>G
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