Canonical Allele Identifier: CA8069167
Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 319893
dbSNP Id: rs200257610

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56870243C>T , CM000678.2:g.56870243C>T GRCh38
NC_000016.9:g.56904155C>T , CM000678.1:g.56904155C>T GRCh37
NC_000016.8:g.55461656C>T NCBI36
NG_009386.1:g.10037C>T
NG_009386.2:g.10037C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.741+8C>T MANE Select ENSP00000456149.2:n.741+8C>T
ENST00000262502.5:c.738+8C>T ENSP00000262502.5:n.738+8C>T
ENST00000438926.6:c.741+8C>T ENSP00000402152.2:n.741+8C>T
ENST00000563236.5:c.741+8C>T ENSP00000456149.1:n.741+8C>T
ENST00000566786.5:c.738+8C>T ENSP00000457552.1:n.738+8C>T
NM_000339.2:c.741+8C>T NP_000330.2:n.741+8C>T
NM_001126107.1:c.738+8C>T NP_001119579.1:n.738+8C>T
NM_001126108.1:c.741+8C>T NP_001119580.1:n.741+8C>T
XM_005256119.1:c.738+8C>T XP_005256176.1:n.738+8C>T
XM_005256119.2:c.738+8C>T XP_005256176.1:n.738+8C>T
NM_000339.3:c.741+8C>T NP_000330.3:n.741+8C>T
NM_001126107.2:c.738+8C>T NP_001119579.2:n.738+8C>T
NM_001126108.2:c.741+8C>T MANE Select NP_001119580.2:n.741+8C>T