Canonical Allele Identifier: CA2224364952

Gene: SLC12A3

Linked Data

• dbSNP Id: rs2055555715

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902721_56902729dup , CM000678.2:g.56902721_56902729dup	GRCh38
NC_000016.9:g.56936633_56936641dup , CM000678.1:g.56936633_56936641dup	GRCh37
NC_000016.8:g.55494134_55494142dup	NCBI36
NG_009386.1:g.42515_42523dup
NG_009386.2:g.42515_42523dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2856+213_2856+221dup MANE Select	ENSP00000456149.2:n.2856+213_2856+221dup
ENST00000262502.5:c.2853+213_2853+221dup	ENSP00000262502.5:n.2853+213_2853+221dup
ENST00000438926.6:c.2883+213_2883+221dup	ENSP00000402152.2:n.2883+213_2883+221dup
ENST00000563236.5:c.2856+213_2856+221dup	ENSP00000456149.1:n.2856+213_2856+221dup
ENST00000566786.5:c.2880+213_2880+221dup	ENSP00000457552.1:n.2880+213_2880+221dup
ENST00000569002.1:n.287+213_287+221dup
NM_000339.2:c.2883+213_2883+221dup	NP_000330.2:n.2883+213_2883+221dup
NM_001126107.1:c.2880+213_2880+221dup	NP_001119579.1:n.2880+213_2880+221dup
NM_001126108.1:c.2856+213_2856+221dup	NP_001119580.1:n.2856+213_2856+221dup
XM_005256119.1:c.2853+213_2853+221dup	XP_005256176.1:n.2853+213_2853+221dup
XM_005256119.2:c.2853+213_2853+221dup	XP_005256176.1:n.2853+213_2853+221dup
NM_000339.3:c.2883+213_2883+221dup	NP_000330.3:n.2883+213_2883+221dup
NM_001126107.2:c.2880+213_2880+221dup	NP_001119579.2:n.2880+213_2880+221dup
NM_001126108.2:c.2856+213_2856+221dup MANE Select	NP_001119580.2:n.2856+213_2856+221dup