Canonical Allele Identifier: CA2602736

Gene: GP9

Linked Data

• ClinVar Variation Id: 255470
• ClinVar RCV Id: RCV000243951 ; RCV000265800 ; RCV001640470
• dbSNP Id: rs115005114
• ExAC: 3:128781123 C / T
• gnomAD v2: 3-128781123-C-T
• gnomAD v3: 3-129062280-C-T
• gnomAD v4: 3-129062280-C-T
• MyVariant Identifiers: chr3:g.128781123C>T (hg19) ; chr3:g.129062280C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129062280C>T , CM000665.2:g.129062280C>T	GRCh38
NC_000003.11:g.128781123C>T , CM000665.1:g.128781123C>T	GRCh37
NC_000003.10:g.130263813C>T	NCBI36
NG_008715.1:g.6479C>T , LRG_477:g.6479C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307395.5:c.*7C>T MANE Select	ENSP00000303942.4:n.*7C>T
ENST00000307395.4:c.*7C>T	ENSP00000303942.4:n.*7C>T
NM_000174.4:c.*7C>T , LRG_477t1:c.*7C>T	NP_000165.1:n.*7C>T
XM_005247374.3:c.*7C>T	XP_005247431.1:n.*7C>T
XM_011512701.1:c.*7C>T	XP_011511003.1:n.*7C>T
XM_011512702.1:c.*7C>T	XP_011511004.1:n.*7C>T
NM_000174.5:c.*7C>T MANE Select	NP_000165.1:n.*7C>T