Canonical Allele Identifier: CA2602632

Gene: GP9

Linked Data

• ClinVar Variation Id: 1131221
• ClinVar RCV Id: RCV001465047
• dbSNP Id: rs140929300
• ExAC: 3:128780684 G / A
• gnomAD v2: 3-128780684-G-A
• gnomAD v3: 3-129061841-G-A
• gnomAD v4: 3-129061841-G-A
• MyVariant Identifiers: chr3:g.128780684G>A (hg19) ; chr3:g.129061841G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129061841G>A , CM000665.2:g.129061841G>A	GRCh38
NC_000003.11:g.128780684G>A , CM000665.1:g.128780684G>A	GRCh37
NC_000003.10:g.130263374G>A	NCBI36
NG_008715.1:g.6040G>A , LRG_477:g.6040G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307395.5:c.102G>A MANE Select	ENSP00000303942.4:p.Leu34=
ENST00000307395.4:c.102G>A	ENSP00000303942.4:p.Leu34=
NM_000174.4:c.102G>A , LRG_477t1:c.102G>A	NP_000165.1:p.Leu34=
XM_005247374.3:c.102G>A	XP_005247431.1:p.Leu34=
XM_011512701.1:c.102G>A	XP_011511003.1:p.Leu34=
XM_011512702.1:c.102G>A	XP_011511004.1:p.Leu34=
NM_000174.5:c.102G>A MANE Select	NP_000165.1:p.Leu34=