Canonical Allele Identifier: CA123177
Gene: GP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 13531
ClinVar RCV Id: RCV000852069 RCV001204218 RCV002222350 RCV000014486
dbSNP Id: rs121918037
gnomAD v3: 3-129061951-T-C
gnomAD v4: 3-129061951-T-C
MyVariant Identifiers: chr3:g.128780794T>C (hg19) chr3:g.129061951T>C (hg38)
PubMed: PMID:9163595
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129061951T>C , CM000665.2:g.129061951T>C GRCh38
NC_000003.11:g.128780794T>C , CM000665.1:g.128780794T>C GRCh37
NC_000003.10:g.130263484T>C NCBI36
NG_008715.1:g.6150T>C , LRG_477:g.6150T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307395.5:c.212T>C MANE Select ENSP00000303942.4:p.Phe71Ser
ENST00000307395.4:c.212T>C ENSP00000303942.4:p.Phe71Ser
NM_000174.4:c.212T>C , LRG_477t1:c.212T>C NP_000165.1:p.Phe71Ser
XM_005247374.3:c.212T>C XP_005247431.1:p.Phe71Ser
XM_011512701.1:c.212T>C XP_011511003.1:p.Phe71Ser
XM_011512702.1:c.212T>C XP_011511004.1:p.Phe71Ser
NM_000174.5:c.212T>C MANE Select NP_000165.1:p.Phe71Ser
Search 100 bp 5'
Search 100 bp 3'