Canonical Allele Identifier: CA711123
Gene: SLC9A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.27106014G>A
GRCh37 chr1:g.27432505G>A
gnomAD v2:
1:27432505 G / A
gnomAD v3:
1:27106014 G / A
gnomAD v4:
chr1-27106014-G-A
Joint Max Group AF 0.00524427 (NFE)
Genomes Max Group AF 0.00426549 (NFE)
Exomes Max Group AF 0.00528104 (NFE)
ClinVar RCV:
RCV000964159
ClinVar Variation:
782731
dbSNP:
35607809
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.27106014G>A , CM000663.2:g.27106014G>A GRCh38
NC_000001.10:g.27432505G>A , CM000663.1:g.27432505G>A GRCh37
NC_000001.9:g.27305092G>A NCBI36
NG_030006.1:g.53947C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263980.8:c.1356C>T MANE Select ENSP00000263980.3:p.Ile452=
ENST00000263980.7:c.1356C>T ENSP00000263980.3:p.Ile452=
ENST00000374086.3:c.1356C>T ENSP00000363199.3:p.Ile452=
NM_003047.4:c.1356C>T NP_003038.2:p.Ile452=
NR_046474.1:n.1691C>T
XM_011542021.1:c.1026C>T XP_011540323.1:p.Ile342=
XM_011542021.3:c.1026C>T XP_011540323.1:p.Ile342=
NM_003047.5:c.1356C>T MANE Select NP_003038.2:p.Ile452=
NR_046474.2:n.1686C>T
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