Canonical Allele Identifier: CA129384

Gene: TRPV3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524224C>A , CM000679.2:g.3524224C>A	GRCh38
NC_000017.10:g.3427518C>A , CM000679.1:g.3427518C>A	GRCh37
NC_000017.9:g.3374268C>A	NCBI36
NG_032144.2:g.38772G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1717G>T MANE Select	ENSP00000461518.2:p.Gly573Cys
ENST00000301365.8:c.1717G>T	ENSP00000301365.4:p.Gly573Cys
ENST00000381913.8:c.979G>T
ENST00000571139.5:c.*1709G>T	ENSP00000458187.1:n.*1709G>T
ENST00000572519.1:c.1717G>T	ENSP00000460215.1:p.Gly573Cys
ENST00000573539.5:c.*1727G>T	ENSP00000458239.1:n.*1727G>T
ENST00000576742.5:c.1717G>T	ENSP00000461518.1:p.Gly573Cys
ENST00000577016.5:c.328+2630G>T
ENST00000616411.4:c.1669G>T	ENSP00000483947.1:p.Gly557Cys
NM_001258205.1:c.1717G>T	NP_001245134.1:p.Gly573Cys
NM_145068.3:c.1717G>T	NP_659505.1:p.Gly573Cys
XM_011523693.1:c.1577+2630G>T	XP_011521995.1:n.1577+2630G>T
XM_011523694.1:c.1012G>T	XP_011521996.1:p.Gly338Cys
XM_011523695.1:c.670G>T	XP_011521997.1:p.Gly224Cys
XR_934004.1:n.1791G>T
NM_001258205.2:c.1717G>T	NP_001245134.1:p.Gly573Cys
NM_145068.4:c.1717G>T MANE Select	NP_659505.1:p.Gly573Cys