Canonical Allele Identifier: CA2224349269

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870106_56870107delinsCT , CM000678.2:g.56870106_56870107delinsCT	GRCh38
NC_000016.9:g.56904018_56904019delinsCT , CM000678.1:g.56904018_56904019delinsCT	GRCh37
NC_000016.8:g.55461519_55461520delinsCT	NCBI36
NG_009386.1:g.9900_9901delinsCT
NG_009386.2:g.9900_9901delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.612_613delinsCT MANE Select	ENSP00000456149.2:p.Tyr204=
ENST00000262502.5:c.609_610delinsCT	ENSP00000262502.5:p.Tyr203=
ENST00000438926.6:c.612_613delinsCT	ENSP00000402152.2:p.Tyr204=
ENST00000563236.5:c.612_613delinsCT	ENSP00000456149.1:p.Tyr204=
ENST00000566786.5:c.609_610delinsCT	ENSP00000457552.1:p.Tyr203=
NM_000339.2:c.612_613delinsCT	NP_000330.2:p.Tyr204=
NM_001126107.1:c.609_610delinsCT	NP_001119579.1:p.Tyr203=
NM_001126108.1:c.612_613delinsCT	NP_001119580.1:p.Tyr204=
XM_005256119.1:c.609_610delinsCT	XP_005256176.1:p.Tyr203=
XM_005256119.2:c.609_610delinsCT	XP_005256176.1:p.Tyr203=
NM_000339.3:c.612_613delinsCT	NP_000330.3:p.Tyr204=
NM_001126107.2:c.609_610delinsCT	NP_001119579.2:p.Tyr203=
NM_001126108.2:c.612_613delinsCT MANE Select	NP_001119580.2:p.Tyr204=