Canonical Allele Identifier: CA123183
Gene: GP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 13534
ClinVar RCV Id: RCV000014489
dbSNP Id: rs121918038

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129061759T>C , CM000665.2:g.129061759T>C GRCh38
NC_000003.11:g.128780602T>C , CM000665.1:g.128780602T>C GRCh37
NC_000003.10:g.130263292T>C NCBI36
NG_008715.1:g.5958T>C , LRG_477:g.5958T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307395.5:c.20T>C MANE Select ENSP00000303942.4:p.Leu7Pro
ENST00000307395.4:c.20T>C ENSP00000303942.4:p.Leu7Pro
NM_000174.4:c.20T>C , LRG_477t1:c.20T>C NP_000165.1:p.Leu7Pro
XM_005247374.3:c.20T>C XP_005247431.1:p.Leu7Pro
XM_011512701.1:c.20T>C XP_011511003.1:p.Leu7Pro
XM_011512702.1:c.20T>C XP_011511004.1:p.Leu7Pro
NM_000174.5:c.20T>C MANE Select NP_000165.1:p.Leu7Pro