Canonical Allele Identifier: CA2224364967

Gene: SLC12A3

Linked Data

• dbSNP Id: rs2055556159

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902758T>A , CM000678.2:g.56902758T>A	GRCh38
NC_000016.9:g.56936670T>A , CM000678.1:g.56936670T>A	GRCh37
NC_000016.8:g.55494171T>A	NCBI36
NG_009386.1:g.42552T>A
NG_009386.2:g.42552T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2856+250T>A MANE Select	ENSP00000456149.2:n.2856+250T>A
ENST00000262502.5:c.2853+250T>A	ENSP00000262502.5:n.2853+250T>A
ENST00000438926.6:c.2883+250T>A	ENSP00000402152.2:n.2883+250T>A
ENST00000563236.5:c.2856+250T>A	ENSP00000456149.1:n.2856+250T>A
ENST00000566786.5:c.2880+250T>A	ENSP00000457552.1:n.2880+250T>A
ENST00000569002.1:n.287+250T>A
NM_000339.2:c.2883+250T>A	NP_000330.2:n.2883+250T>A
NM_001126107.1:c.2880+250T>A	NP_001119579.1:n.2880+250T>A
NM_001126108.1:c.2856+250T>A	NP_001119580.1:n.2856+250T>A
XM_005256119.1:c.2853+250T>A	XP_005256176.1:n.2853+250T>A
XM_005256119.2:c.2853+250T>A	XP_005256176.1:n.2853+250T>A
NM_000339.3:c.2883+250T>A	NP_000330.3:n.2883+250T>A
NM_001126107.2:c.2880+250T>A	NP_001119579.2:n.2880+250T>A
NM_001126108.2:c.2856+250T>A MANE Select	NP_001119580.2:n.2856+250T>A