Canonical Allele Identifier: CA2695223667

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56869772_56869775dup , CM000678.2:g.56869772_56869775dup	GRCh38
NC_000016.9:g.56903684_56903687dup , CM000678.1:g.56903684_56903687dup	GRCh37
NC_000016.8:g.55461185_55461188dup	NCBI36
NG_009386.1:g.9566_9569dup
NG_009386.2:g.9566_9569dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.549_552dup MANE Select	ENSP00000456149.2:p.Thr185HisfsTer?
ENST00000262502.5:c.546_549dup	ENSP00000262502.5:p.Thr184HisfsTer?
ENST00000438926.6:c.549_552dup	ENSP00000402152.2:p.Thr185HisfsTer?
ENST00000563236.5:c.549_552dup	ENSP00000456149.1:p.Thr185HisfsTer?
ENST00000566786.5:c.546_549dup	ENSP00000457552.1:p.Thr184HisfsTer?
NM_000339.2:c.549_552dup	NP_000330.2:p.Thr185HisfsTer?
NM_001126107.1:c.546_549dup	NP_001119579.1:p.Thr184HisfsTer?
NM_001126108.1:c.549_552dup	NP_001119580.1:p.Thr185HisfsTer?
XM_005256119.1:c.546_549dup	XP_005256176.1:p.Thr184HisfsTer?
XM_005256119.2:c.546_549dup	XP_005256176.1:p.Thr184HisfsTer?
NM_000339.3:c.549_552dup	NP_000330.3:p.Thr185HisfsTer?
NM_001126107.2:c.546_549dup	NP_001119579.2:p.Thr184HisfsTer?
NM_001126108.2:c.549_552dup MANE Select	NP_001119580.2:p.Thr185HisfsTer?