Canonical Allele Identifier: CA82551805

Gene: GP9

Linked Data

• dbSNP Id: rs571845937
• gnomAD v2: 3-128780277-C-G
• gnomAD v3: 3-129061434-C-G
• gnomAD v4: 3-129061434-C-G
• MyVariant Identifiers: chr3:g.128780277C>G (hg19) ; chr3:g.129061434C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129061434C>G , CM000665.2:g.129061434C>G	GRCh38
NC_000003.11:g.128780277C>G , CM000665.1:g.128780277C>G	GRCh37
NC_000003.10:g.130262967C>G	NCBI36
NG_008715.1:g.5633C>G , LRG_477:g.5633C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307395.5:c.-138-60C>G MANE Select	ENSP00000303942.4:n.-138-60C>G
ENST00000307395.4:c.-138-60C>G	ENSP00000303942.4:n.-138-60C>G
NM_000174.4:c.-138-60C>G , LRG_477t1:c.-138-60C>G	NP_000165.1:n.-138-60C>G
XM_005247374.3:c.-138-60C>G	XP_005247431.1:n.-138-60C>G
XM_011512701.1:c.-138-60C>G	XP_011511003.1:n.-138-60C>G
XM_011512702.1:c.-12-294C>G	XP_011511004.1:n.-12-294C>G
NM_000174.5:c.-138-60C>G MANE Select	NP_000165.1:n.-138-60C>G