Canonical Allele Identifier: CA397681796
Gene: TRPV3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3524248A>T , CM000679.2:g.3524248A>T GRCh38
NC_000017.10:g.3427542A>T , CM000679.1:g.3427542A>T GRCh37
NC_000017.9:g.3374292A>T NCBI36
NG_032144.2:g.38748T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000576742.6:c.1693T>A MANE Select ENSP00000461518.2:p.Tyr565Asn
ENST00000301365.8:c.1693T>A ENSP00000301365.4:p.Tyr565Asn
ENST00000381913.8:c.955T>A
ENST00000571139.5:c.*1685T>A ENSP00000458187.1:n.*1685T>A
ENST00000572519.1:c.1693T>A ENSP00000460215.1:p.Tyr565Asn
ENST00000573539.5:c.*1703T>A ENSP00000458239.1:n.*1703T>A
ENST00000576742.5:c.1693T>A ENSP00000461518.1:p.Tyr565Asn
ENST00000577016.5:c.328+2606T>A
ENST00000616411.4:c.1645T>A ENSP00000483947.1:p.Tyr549Asn
NM_001258205.1:c.1693T>A NP_001245134.1:p.Tyr565Asn
NM_145068.3:c.1693T>A NP_659505.1:p.Tyr565Asn
XM_011523693.1:c.1577+2606T>A XP_011521995.1:n.1577+2606T>A
XM_011523694.1:c.988T>A XP_011521996.1:p.Tyr330Asn
XM_011523695.1:c.646T>A XP_011521997.1:p.Tyr216Asn
XR_934004.1:n.1767T>A
NM_001258205.2:c.1693T>A NP_001245134.1:p.Tyr565Asn
NM_145068.4:c.1693T>A MANE Select NP_659505.1:p.Tyr565Asn