Canonical Allele Identifier: CA2224364916
Gene: SLC12A3 HGNC NCBI

Linked Data

dbSNP Id: rs2055554435

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56902630_56902631dup , CM000678.2:g.56902630_56902631dup GRCh38
NC_000016.9:g.56936542_56936543dup , CM000678.1:g.56936542_56936543dup GRCh37
NC_000016.8:g.55494043_55494044dup NCBI36
NG_009386.1:g.42424_42425dup
NG_009386.2:g.42424_42425dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.2856+122_2856+123dup MANE Select ENSP00000456149.2:n.2856+122_2856+123dup
ENST00000262502.5:c.2853+122_2853+123dup ENSP00000262502.5:n.2853+122_2853+123dup
ENST00000438926.6:c.2883+122_2883+123dup ENSP00000402152.2:n.2883+122_2883+123dup
ENST00000563236.5:c.2856+122_2856+123dup ENSP00000456149.1:n.2856+122_2856+123dup
ENST00000566786.5:c.2880+122_2880+123dup ENSP00000457552.1:n.2880+122_2880+123dup
ENST00000569002.1:n.287+122_287+123dup
NM_000339.2:c.2883+122_2883+123dup NP_000330.2:n.2883+122_2883+123dup
NM_001126107.1:c.2880+122_2880+123dup NP_001119579.1:n.2880+122_2880+123dup
NM_001126108.1:c.2856+122_2856+123dup NP_001119580.1:n.2856+122_2856+123dup
XM_005256119.1:c.2853+122_2853+123dup XP_005256176.1:n.2853+122_2853+123dup
XM_005256119.2:c.2853+122_2853+123dup XP_005256176.1:n.2853+122_2853+123dup
NM_000339.3:c.2883+122_2883+123dup NP_000330.3:n.2883+122_2883+123dup
NM_001126107.2:c.2880+122_2880+123dup NP_001119579.2:n.2880+122_2880+123dup
NM_001126108.2:c.2856+122_2856+123dup MANE Select NP_001119580.2:n.2856+122_2856+123dup