Canonical Allele Identifier: CA399315050

Gene: PGAP3

Linked Data

• gnomAD v4: 17-39671991-A-G
• MyVariant Identifiers: chr17:g.37828244A>G (hg19) ; chr17:g.39671991A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39671991A>G , CM000679.2:g.39671991A>G	GRCh38
NC_000017.10:g.37828244A>G , CM000679.1:g.37828244A>G	GRCh37
NC_000017.9:g.35081770A>G	NCBI36
NG_034125.1:g.21080T>C
NG_042278.1:g.9011A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.*812T>C MANE Select	ENSP00000300658.4:n.*812T>C
ENST00000300658.8:c.*812T>C	ENSP00000300658.4:n.*812T>C
ENST00000309862.10:n.2160T>C
ENST00000378011.8:c.*812T>C	ENSP00000367250.4:n.*812T>C
ENST00000579146.5:c.*861T>C	ENSP00000463234.1:n.*861T>C
ENST00000614824.4:c.*812T>C	ENSP00000480165.1:n.*812T>C
ENST00000619169.4:c.701T>C	ENSP00000478028.1:p.Val234Ala
NM_001291726.1:c.*812T>C	NP_001278655.1:n.*812T>C
NM_001291728.1:c.*812T>C	NP_001278657.1:n.*812T>C
NM_001291730.1:c.*812T>C	NP_001278659.1:n.*812T>C
NM_001291732.1:c.*812T>C	NP_001278661.1:n.*812T>C
NM_001291733.1:c.*861T>C	NP_001278662.1:n.*861T>C
NM_033419.4:c.*812T>C	NP_219487.3:n.*812T>C
XM_011525480.2:c.*844T>C	XP_011523782.1:n.*844T>C
XM_011525481.2:c.*812T>C	XP_011523783.1:n.*812T>C
XR_002958086.1:n.2302T>C
NM_033419.5:c.*812T>C MANE Select	NP_219487.3:n.*812T>C
NM_001291726.2:c.*812T>C	NP_001278655.1:n.*812T>C
NM_001291728.2:c.*812T>C	NP_001278657.1:n.*812T>C
NM_001291730.2:c.*812T>C	NP_001278659.1:n.*812T>C
NM_001291732.2:c.*812T>C	NP_001278661.1:n.*812T>C
NM_001291733.2:c.*861T>C	NP_001278662.1:n.*861T>C