Canonical Allele Identifier: CA8069597
Gene: SLC12A3 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.56884142C>A
GRCh37 chr16:g.56918054C>A
Revel Score:
ENST00000438926 0.976
ENST00000262502 0.976
gnomAD v2:
16:56918054 C / A
gnomAD v3:
16:56884142 C / A
gnomAD v4:
chr16-56884142-C-A
Joint Max Group AF 0.00001567 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001543 (NFE)
ClinVar RCV:
RCV003064345
ClinVar Variation:
2137825
dbSNP:
121909382
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.1763C>A MANE Select ENSP00000456149.2:p.Ala588Glu
ENST00000262502.5:c.1760C>A ENSP00000262502.5:p.Ala587Glu
ENST00000438926.6:c.1763C>A ENSP00000402152.2:p.Ala588Glu
ENST00000563236.5:c.1763C>A ENSP00000456149.1:p.Ala588Glu
ENST00000566786.5:c.1760C>A ENSP00000457552.1:p.Ala587Glu
NM_000339.2:c.1763C>A NP_000330.2:p.Ala588Glu
NM_001126107.1:c.1760C>A NP_001119579.1:p.Ala587Glu
NM_001126108.1:c.1763C>A NP_001119580.1:p.Ala588Glu
XM_005256119.1:c.1760C>A XP_005256176.1:p.Ala587Glu
XM_005256119.2:c.1760C>A XP_005256176.1:p.Ala587Glu
NM_000339.3:c.1763C>A NP_000330.3:p.Ala588Glu
NM_001126107.2:c.1760C>A NP_001119579.2:p.Ala587Glu
NM_001126108.2:c.1763C>A MANE Select NP_001119580.2:p.Ala588Glu
Search 100 bp 5'
Search 100 bp 3'