Canonical Allele Identifier: CA2243923179
Community Standard Title: NM_145068.4(TRPV3):c.1717G= (p.Gly573=)
Gene: TRPV3 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_145068.4:c.1717G= MANE Select NP_659505.1:p.Gly573=
ENST00000576742.6:c.1717G= MANE Select ENSP00000461518.2:p.Gly573=
NM_001258205.1:c.1717G= NP_001245134.1:p.Gly573=
NM_001258205.2:c.1717G= NP_001245134.1:p.Gly573=
NM_145068.3:c.1717G= NP_659505.1:p.Gly573=
ENST00000301365.8:c.1717G= ENSP00000301365.4:p.Gly573=
ENST00000381913.8:c.979G=
ENST00000571139.5:c.*1709G= ENSP00000458187.1:n.*1709G=
ENST00000572519.1:c.1717G= ENSP00000460215.1:p.Gly573=
ENST00000573539.5:c.*1727G= ENSP00000458239.1:n.*1727G=
ENST00000576742.5:c.1717G= ENSP00000461518.1:p.Gly573=
ENST00000577016.5:c.328+2630G=
ENST00000616411.4:c.1669G= ENSP00000483947.1:p.Gly557=
XM_011523693.1:c.1577+2630G= XP_011521995.1:n.1577+2630G=
XM_011523694.1:c.1012G= XP_011521996.1:p.Gly338=
XM_011523695.1:c.670G= XP_011521997.1:p.Gly224=
XR_934004.1:n.1791G=