Canonical Allele Identifier: CA204579
Gene: SLC12A3 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.56887967G>A
GRCh37 chr16:g.56921879G>A
Revel Score:
ENST00000438926 0.848
ENST00000262502 0.848
gnomAD v2:
16:56921879 G / A
gnomAD v3:
16:56887967 G / A
gnomAD v4:
chr16-56887967-G-A
Joint Max Group AF 0.00094729 (NFE)
Genomes Max Group AF 0.00062522 (NFE)
Exomes Max Group AF 0.00095848 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56887967G>A , CM000678.2:g.56887967G>A GRCh38
NC_000016.9:g.56921879G>A , CM000678.1:g.56921879G>A GRCh37
NC_000016.8:g.55479380G>A NCBI36
NG_009386.1:g.27761G>A
NG_009386.2:g.27761G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.2221G>A MANE Select ENSP00000456149.2:p.Gly741Arg
ENST00000262502.5:c.2218G>A ENSP00000262502.5:p.Gly740Arg
ENST00000438926.6:c.2221G>A ENSP00000402152.2:p.Gly741Arg
ENST00000563236.5:c.2221G>A ENSP00000456149.1:p.Gly741Arg
ENST00000566786.5:c.2218G>A ENSP00000457552.1:p.Gly740Arg
NM_000339.2:c.2221G>A NP_000330.2:p.Gly741Arg
NM_001126107.1:c.2218G>A NP_001119579.1:p.Gly740Arg
NM_001126108.1:c.2221G>A NP_001119580.1:p.Gly741Arg
XM_005256119.1:c.2218G>A XP_005256176.1:p.Gly740Arg
XM_005256119.2:c.2218G>A XP_005256176.1:p.Gly740Arg
NM_000339.3:c.2221G>A NP_000330.3:p.Gly741Arg
NM_001126107.2:c.2218G>A NP_001119579.2:p.Gly740Arg
NM_001126108.2:c.2221G>A MANE Select NP_001119580.2:p.Gly741Arg
Search 100 bp 5'
Search 100 bp 3'