Canonical Allele Identifier: CA399315172

Gene: PGAP3

Linked Data

• gnomAD v4: 17-39672046-A-G
• MyVariant Identifiers: chr17:g.37828299A>G (hg19) ; chr17:g.39672046A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39672046A>G , CM000679.2:g.39672046A>G	GRCh38
NC_000017.10:g.37828299A>G , CM000679.1:g.37828299A>G	GRCh37
NC_000017.9:g.35081825A>G	NCBI36
NG_034125.1:g.21025T>C
NG_042278.1:g.9066A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.*757T>C MANE Select	ENSP00000300658.4:n.*757T>C
ENST00000300658.8:c.*757T>C	ENSP00000300658.4:n.*757T>C
ENST00000309862.10:n.2105T>C
ENST00000378011.8:c.*757T>C	ENSP00000367250.4:n.*757T>C
ENST00000579146.5:c.*806T>C	ENSP00000463234.1:n.*806T>C
ENST00000614824.4:c.*757T>C	ENSP00000480165.1:n.*757T>C
ENST00000619169.4:c.646T>C	ENSP00000478028.1:p.Cys216Arg
NM_001291726.1:c.*757T>C	NP_001278655.1:n.*757T>C
NM_001291728.1:c.*757T>C	NP_001278657.1:n.*757T>C
NM_001291730.1:c.*757T>C	NP_001278659.1:n.*757T>C
NM_001291732.1:c.*757T>C	NP_001278661.1:n.*757T>C
NM_001291733.1:c.*806T>C	NP_001278662.1:n.*806T>C
NM_033419.4:c.*757T>C	NP_219487.3:n.*757T>C
XM_011525480.2:c.*789T>C	XP_011523782.1:n.*789T>C
XM_011525481.2:c.*757T>C	XP_011523783.1:n.*757T>C
XR_002958086.1:n.2247T>C
NM_033419.5:c.*757T>C MANE Select	NP_219487.3:n.*757T>C
NM_001291726.2:c.*757T>C	NP_001278655.1:n.*757T>C
NM_001291728.2:c.*757T>C	NP_001278657.1:n.*757T>C
NM_001291730.2:c.*757T>C	NP_001278659.1:n.*757T>C
NM_001291732.2:c.*757T>C	NP_001278661.1:n.*757T>C
NM_001291733.2:c.*806T>C	NP_001278662.1:n.*806T>C