Canonical Allele Identifier: CA2243923296
Gene: TRPV3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3524265C= , CM000679.2:g.3524265C= GRCh38
NC_000017.10:g.3427559C= , CM000679.1:g.3427559C= GRCh37
NC_000017.9:g.3374309C= NCBI36
NG_032144.2:g.38731G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000576742.6:c.1676G= MANE Select ENSP00000461518.2:p.Trp559=
ENST00000301365.8:c.1676G= ENSP00000301365.4:p.Trp559=
ENST00000381913.8:c.938G=
ENST00000571139.5:c.*1668G= ENSP00000458187.1:n.*1668G=
ENST00000572519.1:c.1676G= ENSP00000460215.1:p.Trp559=
ENST00000573539.5:c.*1686G= ENSP00000458239.1:n.*1686G=
ENST00000576742.5:c.1676G= ENSP00000461518.1:p.Trp559=
ENST00000577016.5:c.328+2589G=
ENST00000616411.4:c.1628G= ENSP00000483947.1:p.Trp543=
NM_001258205.1:c.1676G= NP_001245134.1:p.Trp559=
NM_145068.3:c.1676G= NP_659505.1:p.Trp559=
XM_011523693.1:c.1577+2589G= XP_011521995.1:n.1577+2589G=
XM_011523694.1:c.971G= XP_011521996.1:p.Trp324=
XM_011523695.1:c.629G= XP_011521997.1:p.Trp210=
XR_934004.1:n.1750G=
NM_001258205.2:c.1676G= NP_001245134.1:p.Trp559=
NM_145068.4:c.1676G= MANE Select NP_659505.1:p.Trp559=