Canonical Allele Identifier: CA8068995
Gene: SLC12A3 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.56867150G>C
GRCh37 chr16:g.56901062G>C
Revel Score:
ENST00000438926 0.217
ENST00000262502 0.217
gnomAD v2:
16:56901062 G / C
gnomAD v3:
16:56867150 G / C
gnomAD v4:
chr16-56867150-G-C
Joint Max Group AF 0.00186109 (NFE)
Genomes Max Group AF 0.00137149 (NFE)
Exomes Max Group AF 0.00187696 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56867150G>C , CM000678.2:g.56867150G>C GRCh38
NC_000016.9:g.56901062G>C , CM000678.1:g.56901062G>C GRCh37
NC_000016.8:g.55458563G>C NCBI36
NG_009386.1:g.6944G>C
NG_009386.2:g.6944G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.363G>C MANE Select ENSP00000456149.2:p.Glu121Asp
ENST00000262502.5:c.360G>C ENSP00000262502.5:p.Glu120Asp
ENST00000438926.6:c.363G>C ENSP00000402152.2:p.Glu121Asp
ENST00000563236.5:c.363G>C ENSP00000456149.1:p.Glu121Asp
ENST00000566786.5:c.360G>C ENSP00000457552.1:p.Glu120Asp
NM_000339.2:c.363G>C NP_000330.2:p.Glu121Asp
NM_001126107.1:c.360G>C NP_001119579.1:p.Glu120Asp
NM_001126108.1:c.363G>C NP_001119580.1:p.Glu121Asp
XM_005256119.1:c.360G>C XP_005256176.1:p.Glu120Asp
XM_005256119.2:c.360G>C XP_005256176.1:p.Glu120Asp
NM_000339.3:c.363G>C NP_000330.3:p.Glu121Asp
NM_001126107.2:c.360G>C NP_001119579.2:p.Glu120Asp
NM_001126108.2:c.363G>C MANE Select NP_001119580.2:p.Glu121Asp
Search 100 bp 5'
Search 100 bp 3'