Canonical Allele Identifier: CA2259204149

Gene: PGAP3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39672251G= , CM000679.2:g.39672251G=	GRCh38
NC_000017.10:g.37828504G= , CM000679.1:g.37828504G=	GRCh37
NC_000017.9:g.35082030G=	NCBI36
NG_034125.1:g.20820C=
NG_042278.1:g.9271G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.*552C= MANE Select	ENSP00000300658.4:n.*552C=
ENST00000300658.8:c.*552C=	ENSP00000300658.4:n.*552C=
ENST00000309862.10:n.1900C=
ENST00000378011.8:c.*552C=	ENSP00000367250.4:n.*552C=
ENST00000579146.5:c.*601C=	ENSP00000463234.1:n.*601C=
ENST00000614824.4:c.*552C=	ENSP00000480165.1:n.*552C=
ENST00000619169.4:c.441C=	ENSP00000478028.1:p.His147=
NM_001291726.1:c.*552C=	NP_001278655.1:n.*552C=
NM_001291728.1:c.*552C=	NP_001278657.1:n.*552C=
NM_001291730.1:c.*552C=	NP_001278659.1:n.*552C=
NM_001291732.1:c.*552C=	NP_001278661.1:n.*552C=
NM_001291733.1:c.*601C=	NP_001278662.1:n.*601C=
NM_033419.4:c.*552C=	NP_219487.3:n.*552C=
XM_011525481.1:c.*552C=	XP_011523783.1:n.*552C=
XM_011525480.2:c.*584C=	XP_011523782.1:n.*584C=
XM_011525481.2:c.*552C=	XP_011523783.1:n.*552C=
XR_002958086.1:n.2042C=
NM_033419.5:c.*552C= MANE Select	NP_219487.3:n.*552C=
NM_001291726.2:c.*552C=	NP_001278655.1:n.*552C=
NM_001291728.2:c.*552C=	NP_001278657.1:n.*552C=
NM_001291730.2:c.*552C=	NP_001278659.1:n.*552C=
NM_001291732.2:c.*552C=	NP_001278661.1:n.*552C=
NM_001291733.2:c.*601C=	NP_001278662.1:n.*601C=