Canonical Allele Identifier: CA1783851018

Gene: PCMTD1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.51844533G= , CM000670.2:g.51844533G=	GRCh38
NC_000008.10:g.52757093G= , CM000670.1:g.52757093G=	GRCh37
NC_000008.9:g.52919646G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_052937.4:c.410+1128C= MANE Select	NP_443169.2:n.410+1128C=
ENST00000522514.6:c.410+1128C= MANE Select	ENSP00000428099.1:n.410+1128C=
NM_001286782.1:c.183-10844C=	NP_001273711.1:n.183-10844C=
NM_001286783.1:c.-311+1128C=	NP_001273712.1:n.-311+1128C=
NM_001286783.2:c.-311+1128C=	NP_001273712.1:n.-311+1128C=
NM_001363193.1:c.410+1128C=	NP_001350122.1:n.410+1128C=
NM_052937.3:c.410+1128C=	NP_443169.2:n.410+1128C=
ENST00000360540.9:c.410+1128C=	ENSP00000353739.5:n.410+1128C=
ENST00000519554.5:c.85+1128C=
ENST00000519559.1:n.144+1128C=
ENST00000522514.5:c.410+1128C=	ENSP00000428099.1:n.410+1128C=
ENST00000544451.2:c.183-10844C=	ENSP00000444026.1:n.183-10844C=
XM_005251146.1:c.410+1128C=	XP_005251203.1:n.410+1128C=
XM_011517444.1:c.-119+1128C=	XP_011515746.1:n.-119+1128C=
XR_001745466.2:n.742+1128C=
XR_928755.1:n.742+1128C=