Canonical Allele Identifier: CA2243923238

Gene: TRPV3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524241C= , CM000679.2:g.3524241C=	GRCh38
NC_000017.10:g.3427535C= , CM000679.1:g.3427535C=	GRCh37
NC_000017.9:g.3374285C=	NCBI36
NG_032144.2:g.38755G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000576742.6:c.1700G= MANE Select	ENSP00000461518.2:p.Arg567=
ENST00000301365.8:c.1700G=	ENSP00000301365.4:p.Arg567=
ENST00000381913.8:c.962G=
ENST00000571139.5:c.*1692G=	ENSP00000458187.1:n.*1692G=
ENST00000572519.1:c.1700G=	ENSP00000460215.1:p.Arg567=
ENST00000573539.5:c.*1710G=	ENSP00000458239.1:n.*1710G=
ENST00000576742.5:c.1700G=	ENSP00000461518.1:p.Arg567=
ENST00000577016.5:c.328+2613G=
ENST00000616411.4:c.1652G=	ENSP00000483947.1:p.Arg551=
NM_001258205.1:c.1700G=	NP_001245134.1:p.Arg567=
NM_145068.3:c.1700G=	NP_659505.1:p.Arg567=
XM_011523693.1:c.1577+2613G=	XP_011521995.1:n.1577+2613G=
XM_011523694.1:c.995G=	XP_011521996.1:p.Arg332=
XM_011523695.1:c.653G=	XP_011521997.1:p.Arg218=
XR_934004.1:n.1774G=
NM_001258205.2:c.1700G=	NP_001245134.1:p.Arg567=
NM_145068.4:c.1700G= MANE Select	NP_659505.1:p.Arg567=