Canonical Allele Identifier: CA2224349098

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56869777_56869779delinsCAG , CM000678.2:g.56869777_56869779delinsCAG	GRCh38
NC_000016.9:g.56903689_56903691delinsCAG , CM000678.1:g.56903689_56903691delinsCAG	GRCh37
NC_000016.8:g.55461190_55461192delinsCAG	NCBI36
NG_009386.1:g.9571_9573delinsCAG
NG_009386.2:g.9571_9573delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.554_556delinsCAG MANE Select	ENSP00000456149.2:p.Thr185=
ENST00000262502.5:c.551_553delinsCAG	ENSP00000262502.5:p.Thr184=
ENST00000438926.6:c.554_556delinsCAG	ENSP00000402152.2:p.Thr185=
ENST00000563236.5:c.554_556delinsCAG	ENSP00000456149.1:p.Thr185=
ENST00000566786.5:c.551_553delinsCAG	ENSP00000457552.1:p.Thr184=
NM_000339.2:c.554_556delinsCAG	NP_000330.2:p.Thr185=
NM_001126107.1:c.551_553delinsCAG	NP_001119579.1:p.Thr184=
NM_001126108.1:c.554_556delinsCAG	NP_001119580.1:p.Thr185=
XM_005256119.1:c.551_553delinsCAG	XP_005256176.1:p.Thr184=
XM_005256119.2:c.551_553delinsCAG	XP_005256176.1:p.Thr184=
NM_000339.3:c.554_556delinsCAG	NP_000330.3:p.Thr185=
NM_001126107.2:c.551_553delinsCAG	NP_001119579.2:p.Thr184=
NM_001126108.2:c.554_556delinsCAG MANE Select	NP_001119580.2:p.Thr185=