Canonical Allele Identifier: CA2602658

Gene: GP9

Linked Data

• dbSNP Id: rs754789523
• ExAC: 3:128780777 C / G
• gnomAD v2: 3-128780777-C-G
• MyVariant Identifiers: chr3:g.128780777C>G (hg19) ; chr3:g.129061934C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129061934C>G , CM000665.2:g.129061934C>G	GRCh38
NC_000003.11:g.128780777C>G , CM000665.1:g.128780777C>G	GRCh37
NC_000003.10:g.130263467C>G	NCBI36
NG_008715.1:g.6133C>G , LRG_477:g.6133C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307395.5:c.195C>G MANE Select	ENSP00000303942.4:p.Ser65=
ENST00000307395.4:c.195C>G	ENSP00000303942.4:p.Ser65=
NM_000174.4:c.195C>G , LRG_477t1:c.195C>G	NP_000165.1:p.Ser65=
XM_005247374.3:c.195C>G	XP_005247431.1:p.Ser65=
XM_011512701.1:c.195C>G	XP_011511003.1:p.Ser65=
XM_011512702.1:c.195C>G	XP_011511004.1:p.Ser65=
NM_000174.5:c.195C>G MANE Select	NP_000165.1:p.Ser65=