Canonical Allele Identifier: CA290439089

Gene: PGAP3

Linked Data

• dbSNP Id: rs927342859
• gnomAD v3: 17-39672027-A-T
• gnomAD v4: 17-39672027-A-T
• MyVariant Identifiers: chr17:g.37828280A>T (hg19) ; chr17:g.39672027A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39672027A>T , CM000679.2:g.39672027A>T	GRCh38
NC_000017.10:g.37828280A>T , CM000679.1:g.37828280A>T	GRCh37
NC_000017.9:g.35081806A>T	NCBI36
NG_034125.1:g.21044T>A
NG_042278.1:g.9047A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.*776T>A MANE Select	ENSP00000300658.4:n.*776T>A
ENST00000300658.8:c.*776T>A	ENSP00000300658.4:n.*776T>A
ENST00000309862.10:n.2124T>A
ENST00000378011.8:c.*776T>A	ENSP00000367250.4:n.*776T>A
ENST00000579146.5:c.*825T>A	ENSP00000463234.1:n.*825T>A
ENST00000614824.4:c.*776T>A	ENSP00000480165.1:n.*776T>A
ENST00000619169.4:c.665T>A	ENSP00000478028.1:p.Val222Glu
NM_001291726.1:c.*776T>A	NP_001278655.1:n.*776T>A
NM_001291728.1:c.*776T>A	NP_001278657.1:n.*776T>A
NM_001291730.1:c.*776T>A	NP_001278659.1:n.*776T>A
NM_001291732.1:c.*776T>A	NP_001278661.1:n.*776T>A
NM_001291733.1:c.*825T>A	NP_001278662.1:n.*825T>A
NM_033419.4:c.*776T>A	NP_219487.3:n.*776T>A
XM_011525480.2:c.*808T>A	XP_011523782.1:n.*808T>A
XM_011525481.2:c.*776T>A	XP_011523783.1:n.*776T>A
XR_002958086.1:n.2266T>A
NM_033419.5:c.*776T>A MANE Select	NP_219487.3:n.*776T>A
NM_001291726.2:c.*776T>A	NP_001278655.1:n.*776T>A
NM_001291728.2:c.*776T>A	NP_001278657.1:n.*776T>A
NM_001291730.2:c.*776T>A	NP_001278659.1:n.*776T>A
NM_001291732.2:c.*776T>A	NP_001278661.1:n.*776T>A
NM_001291733.2:c.*825T>A	NP_001278662.1:n.*825T>A