Canonical Allele Identifier: CA202222

Gene: GP9

Linked Data

• ClinVar Variation Id: 196227
• ClinVar RCV Id: RCV000177001 ; RCV000271819 ; RCV001520971
• dbSNP Id: rs3796130
• ExAC: 3:128781048 G / A
• gnomAD v2: 3-128781048-G-A
• gnomAD v3: 3-129062205-G-A
• gnomAD v4: 3-129062205-G-A
• MyVariant Identifiers: chr3:g.128781048G>A (hg19) ; chr3:g.129062205G>A (hg38)
• PubMed: PMID:11758225

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129062205G>A , CM000665.2:g.129062205G>A	GRCh38
NC_000003.11:g.128781048G>A , CM000665.1:g.128781048G>A	GRCh37
NC_000003.10:g.130263738G>A	NCBI36
NG_008715.1:g.6404G>A , LRG_477:g.6404G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307395.5:c.466G>A MANE Select	ENSP00000303942.4:p.Ala156Thr
ENST00000307395.4:c.466G>A	ENSP00000303942.4:p.Ala156Thr
NM_000174.4:c.466G>A , LRG_477t1:c.466G>A	NP_000165.1:p.Ala156Thr
XM_005247374.3:c.466G>A	XP_005247431.1:p.Ala156Thr
XM_011512701.1:c.466G>A	XP_011511003.1:p.Ala156Thr
XM_011512702.1:c.466G>A	XP_011511004.1:p.Ala156Thr
NM_000174.5:c.466G>A MANE Select	NP_000165.1:p.Ala156Thr