Canonical Allele Identifier: CA119774
Gene: SLC12A3 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.56884142C>T
GRCh37 chr16:g.56918054C>T
Revel Score:
ENST00000438926 0.964
ENST00000262502 0.964
gnomAD v2:
16:56918054 C / T
gnomAD v3:
16:56884142 C / T
gnomAD v4:
chr16-56884142-C-T
Joint Max Group AF 0.00007255 (EAS)
Genomes Max Group AF 0.00001918 (AFR)
Exomes Max Group AF 0.00008198 (EAS)
ClinVar RCV:
RCV000009122
RCV001046660
ClinVar Variation:
8591
dbSNP:
121909382
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56884142C>T , CM000678.2:g.56884142C>T GRCh38
NC_000016.9:g.56918054C>T , CM000678.1:g.56918054C>T GRCh37
NC_000016.8:g.55475555C>T NCBI36
NG_009386.1:g.23936C>T
NG_009386.2:g.23936C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.1763C>T MANE Select ENSP00000456149.2:p.Ala588Val
ENST00000262502.5:c.1760C>T ENSP00000262502.5:p.Ala587Val
ENST00000438926.6:c.1763C>T ENSP00000402152.2:p.Ala588Val
ENST00000563236.5:c.1763C>T ENSP00000456149.1:p.Ala588Val
ENST00000566786.5:c.1760C>T ENSP00000457552.1:p.Ala587Val
NM_000339.2:c.1763C>T NP_000330.2:p.Ala588Val
NM_001126107.1:c.1760C>T NP_001119579.1:p.Ala587Val
NM_001126108.1:c.1763C>T NP_001119580.1:p.Ala588Val
XM_005256119.1:c.1760C>T XP_005256176.1:p.Ala587Val
XM_005256119.2:c.1760C>T XP_005256176.1:p.Ala587Val
NM_000339.3:c.1763C>T NP_000330.3:p.Ala588Val
NM_001126107.2:c.1760C>T NP_001119579.2:p.Ala587Val
NM_001126108.2:c.1763C>T MANE Select NP_001119580.2:p.Ala588Val
Search 100 bp 5'
Search 100 bp 3'