Canonical Allele Identifier: CA354447270

Gene: GP9

Linked Data

• dbSNP Id: rs1267634927
• gnomAD v2: 3-128780766-A-C
• MyVariant Identifiers: chr3:g.128780766A>C (hg19) ; chr3:g.129061923A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129061923A>C , CM000665.2:g.129061923A>C	GRCh38
NC_000003.11:g.128780766A>C , CM000665.1:g.128780766A>C	GRCh37
NC_000003.10:g.130263456A>C	NCBI36
NG_008715.1:g.6122A>C , LRG_477:g.6122A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307395.5:c.184A>C MANE Select	ENSP00000303942.4:p.Ser62Arg
ENST00000307395.4:c.184A>C	ENSP00000303942.4:p.Ser62Arg
NM_000174.4:c.184A>C , LRG_477t1:c.184A>C	NP_000165.1:p.Ser62Arg
XM_005247374.3:c.184A>C	XP_005247431.1:p.Ser62Arg
XM_011512701.1:c.184A>C	XP_011511003.1:p.Ser62Arg
XM_011512702.1:c.184A>C	XP_011511004.1:p.Ser62Arg
NM_000174.5:c.184A>C MANE Select	NP_000165.1:p.Ser62Arg