Canonical Allele Identifier: CA2602671
Gene: GP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1121063
ClinVar RCV Id: RCV001451240
dbSNP Id: rs142692011
ExAC: 3:128780831 G / A
gnomAD v2: 3-128780831-G-A
gnomAD v3: 3-129061988-G-A
gnomAD v4: 3-129061988-G-A
MyVariant Identifiers: chr3:g.128780831G>A (hg19) chr3:g.129061988G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129061988G>A , CM000665.2:g.129061988G>A GRCh38
NC_000003.11:g.128780831G>A , CM000665.1:g.128780831G>A GRCh37
NC_000003.10:g.130263521G>A NCBI36
NG_008715.1:g.6187G>A , LRG_477:g.6187G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307395.5:c.249G>A MANE Select ENSP00000303942.4:p.Thr83=
ENST00000307395.4:c.249G>A ENSP00000303942.4:p.Thr83=
NM_000174.4:c.249G>A , LRG_477t1:c.249G>A NP_000165.1:p.Thr83=
XM_005247374.3:c.249G>A XP_005247431.1:p.Thr83=
XM_011512701.1:c.249G>A XP_011511003.1:p.Thr83=
XM_011512702.1:c.249G>A XP_011511004.1:p.Thr83=
NM_000174.5:c.249G>A MANE Select NP_000165.1:p.Thr83=
Search 100 bp 5'
Search 100 bp 3'