Canonical Allele Identifier: CA8069604
Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 886418
dbSNP Id: rs201432183

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56884162G>A , CM000678.2:g.56884162G>A GRCh38
NC_000016.9:g.56918074G>A , CM000678.1:g.56918074G>A GRCh37
NC_000016.8:g.55475575G>A NCBI36
NG_009386.1:g.23956G>A
NG_009386.2:g.23956G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.1783G>A MANE Select ENSP00000456149.2:p.Val595Met
ENST00000262502.5:c.1780G>A ENSP00000262502.5:p.Val594Met
ENST00000438926.6:c.1783G>A ENSP00000402152.2:p.Val595Met
ENST00000563236.5:c.1783G>A ENSP00000456149.1:p.Val595Met
ENST00000566786.5:c.1780G>A ENSP00000457552.1:p.Val594Met
NM_000339.2:c.1783G>A NP_000330.2:p.Val595Met
NM_001126107.1:c.1780G>A NP_001119579.1:p.Val594Met
NM_001126108.1:c.1783G>A NP_001119580.1:p.Val595Met
XM_005256119.1:c.1780G>A XP_005256176.1:p.Val594Met
XM_005256119.2:c.1780G>A XP_005256176.1:p.Val594Met
NM_000339.3:c.1783G>A NP_000330.3:p.Val595Met
NM_001126107.2:c.1780G>A NP_001119579.2:p.Val594Met
NM_001126108.2:c.1783G>A MANE Select NP_001119580.2:p.Val595Met