Canonical Allele Identifier: CA8070172
Gene: SLC12A3 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.56913293G>A
GRCh37 chr16:g.56947205G>A
Revel Score:
ENST00000438926 0.583
ENST00000262502 0.583
gnomAD v2:
16:56947205 G / A
gnomAD v3:
16:56913293 G / A
gnomAD v4:
chr16-56913293-G-A
Joint Max Group AF 0.0002067 (AMR)
Genomes Max Group AF 0.00010176 (NFE)
Exomes Max Group AF 0.0002775 (AMR)
ClinVar RCV:
RCV000517299
RCV001271446
ClinVar Variation:
448395
dbSNP:
199849117
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56913293G>A , CM000678.2:g.56913293G>A GRCh38
NC_000016.9:g.56947205G>A , CM000678.1:g.56947205G>A GRCh37
NC_000016.8:g.55504706G>A NCBI36
NG_009386.1:g.53087G>A
NG_009386.2:g.53087G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.2954G>A MANE Select ENSP00000456149.2:p.Cys985Tyr
ENST00000262502.5:c.2951G>A ENSP00000262502.5:p.Cys984Tyr
ENST00000438926.6:c.2981G>A ENSP00000402152.2:p.Cys994Tyr
ENST00000563236.5:c.2954G>A ENSP00000456149.1:p.Cys985Tyr
ENST00000563352.1:n.102G>A
ENST00000566786.5:c.2978G>A ENSP00000457552.1:p.Cys993Tyr
NM_000339.2:c.2981G>A NP_000330.2:p.Cys994Tyr
NM_001126107.1:c.2978G>A NP_001119579.1:p.Cys993Tyr
NM_001126108.1:c.2954G>A NP_001119580.1:p.Cys985Tyr
XM_005256119.1:c.2951G>A XP_005256176.1:p.Cys984Tyr
XM_005256119.2:c.2951G>A XP_005256176.1:p.Cys984Tyr
NM_000339.3:c.2981G>A NP_000330.3:p.Cys994Tyr
NM_001126107.2:c.2978G>A NP_001119579.2:p.Cys993Tyr
NM_001126108.2:c.2954G>A MANE Select NP_001119580.2:p.Cys985Tyr
Search 100 bp 5'
Search 100 bp 3'