Canonical Allele Identifier: CA2843084632

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902438dup , CM000678.2:g.56902438dup	GRCh38
NC_000016.9:g.56936350dup , CM000678.1:g.56936350dup	GRCh37
NC_000016.8:g.55493851dup	NCBI36
NG_009386.1:g.42232dup
NG_009386.2:g.42232dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2786dup MANE Select	ENSP00000456149.2:p.Val930CysfsTer15
ENST00000262502.5:c.2783dup	ENSP00000262502.5:p.Val929CysfsTer15
ENST00000438926.6:c.2813dup	ENSP00000402152.2:p.Val939CysfsTer15
ENST00000563236.5:c.2786dup	ENSP00000456149.1:p.Val930CysfsTer15
ENST00000566786.5:c.2810dup	ENSP00000457552.1:p.Val938CysfsTer15
ENST00000569002.1:n.217dup
NM_000339.2:c.2813dup	NP_000330.2:p.Val939CysfsTer15
NM_001126107.1:c.2810dup	NP_001119579.1:p.Val938CysfsTer15
NM_001126108.1:c.2786dup	NP_001119580.1:p.Val930CysfsTer15
XM_005256119.1:c.2783dup	XP_005256176.1:p.Val929CysfsTer15
XM_005256119.2:c.2783dup	XP_005256176.1:p.Val929CysfsTer15
NM_000339.3:c.2813dup	NP_000330.3:p.Val939CysfsTer15
NM_001126107.2:c.2810dup	NP_001119579.2:p.Val938CysfsTer15
NM_001126108.2:c.2786dup MANE Select	NP_001119580.2:p.Val930CysfsTer15