Canonical Allele Identifier: CA115505
Gene: SLC9A9 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.143493701G>A
GRCh37 chr3:g.143212543G>A
gnomAD v2:
3:143212543 G / A
gnomAD v3:
3:143493701 G / A
gnomAD v4:
chr3-143493701-G-A
Joint Max Group AF 0.00003232 (AMR)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002985 (AMR)
ClinVar Allele:
17402
ClinVar RCV:
RCV000002459
ClinVar Variation:
2363
dbSNP:
121912597
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.143493701G>A , CM000665.2:g.143493701G>A GRCh38
NC_000003.11:g.143212543G>A , CM000665.1:g.143212543G>A GRCh37
NC_000003.10:g.144695233G>A NCBI36
NG_017077.1:g.359831C>T
NG_017077.2:g.359831C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000316549.11:c.1267C>T MANE Select ENSP00000320246.6:p.Arg423Ter
ENST00000316549.10:c.1267C>T ENSP00000320246.6:p.Arg423Ter
NM_173653.3:c.1267C>T NP_775924.1:p.Arg423Ter
XM_011512703.1:c.619C>T XP_011511005.1:p.Arg207Ter
XM_011512703.3:c.619C>T XP_011511005.1:p.Arg207Ter
XM_017006202.2:c.1267C>T XP_016861691.1:p.Arg423Ter
XM_017006203.1:c.916C>T XP_016861692.1:p.Arg306Ter
NM_173653.4:c.1267C>T MANE Select NP_775924.1:p.Arg423Ter
Search 100 bp 5'
Search 100 bp 3'