Canonical Allele Identifier: CA8070190

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56913364C>T , CM000678.2:g.56913364C>T	GRCh38
NC_000016.9:g.56947276C>T , CM000678.1:g.56947276C>T	GRCh37
NC_000016.8:g.55504777C>T	NCBI36
NG_009386.1:g.53158C>T
NG_009386.2:g.53158C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001126108.2:c.3025C>T MANE Select	NP_001119580.2:p.Arg1009Ter
ENST00000563236.6:c.3025C>T MANE Select	ENSP00000456149.2:p.Arg1009Ter
NM_000339.2:c.3052C>T	NP_000330.2:p.Arg1018Ter
NM_000339.3:c.3052C>T	NP_000330.3:p.Arg1018Ter
NM_001126107.1:c.3049C>T	NP_001119579.1:p.Arg1017Ter
NM_001126107.2:c.3049C>T	NP_001119579.2:p.Arg1017Ter
NM_001126108.1:c.3025C>T	NP_001119580.1:p.Arg1009Ter
ENST00000262502.5:c.3022C>T	ENSP00000262502.5:p.Arg1008Ter
ENST00000438926.6:c.3052C>T	ENSP00000402152.2:p.Arg1018Ter
ENST00000563236.5:c.3025C>T	ENSP00000456149.1:p.Arg1009Ter
ENST00000563352.1:n.173C>T
ENST00000566786.5:c.3049C>T	ENSP00000457552.1:p.Arg1017Ter
XM_005256119.1:c.3022C>T	XP_005256176.1:p.Arg1008Ter
XM_005256119.2:c.3022C>T	XP_005256176.1:p.Arg1008Ter