Canonical Allele Identifier: CA216088
Gene: SLC12A3 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.56879081G>A
GRCh37 chr16:g.56912993G>A
Revel Score:
ENST00000438926 0.591
ENST00000262502 0.591
gnomAD v2:
16:56912993 G / A
gnomAD v3:
16:56879081 G / A
gnomAD v4:
chr16-56879081-G-A
Joint Max Group AF 0.0001418 (AMR)
Genomes Max Group AF 0.00021465 (AMR)
Exomes Max Group AF 0.00008948 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56879081G>A , CM000678.2:g.56879081G>A GRCh38
NC_000016.9:g.56912993G>A , CM000678.1:g.56912993G>A GRCh37
NC_000016.8:g.55470494G>A NCBI36
NG_009386.1:g.18875G>A
NG_009386.2:g.18875G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.1189G>A MANE Select ENSP00000456149.2:p.Val397Met
ENST00000262502.5:c.1186G>A ENSP00000262502.5:p.Val396Met
ENST00000438926.6:c.1189G>A ENSP00000402152.2:p.Val397Met
ENST00000563236.5:c.1189G>A ENSP00000456149.1:p.Val397Met
ENST00000566786.5:c.1186G>A ENSP00000457552.1:p.Val396Met
NM_000339.2:c.1189G>A NP_000330.2:p.Val397Met
NM_001126107.1:c.1186G>A NP_001119579.1:p.Val396Met
NM_001126108.1:c.1189G>A NP_001119580.1:p.Val397Met
XM_005256119.1:c.1186G>A XP_005256176.1:p.Val396Met
XM_005256119.2:c.1186G>A XP_005256176.1:p.Val396Met
NM_000339.3:c.1189G>A NP_000330.3:p.Val397Met
NM_001126107.2:c.1186G>A NP_001119579.2:p.Val396Met
NM_001126108.2:c.1189G>A MANE Select NP_001119580.2:p.Val397Met
Search 100 bp 5'
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