Canonical Allele Identifier: CA2224364858
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56902512C= , CM000678.2:g.56902512C= GRCh38
NC_000016.9:g.56936424C= , CM000678.1:g.56936424C= GRCh37
NC_000016.8:g.55493925C= NCBI36
NG_009386.1:g.42306C=
NG_009386.2:g.42306C=

Transcript Alleles

HGVS Amino-acid change
ENST00000563236.6:c.2856+4C= MANE Select ENSP00000456149.2:n.2856+4C=
ENST00000262502.5:c.2853+4C= ENSP00000262502.5:n.2853+4C=
ENST00000438926.6:c.2883+4C= ENSP00000402152.2:n.2883+4C=
ENST00000563236.5:c.2856+4C= ENSP00000456149.1:n.2856+4C=
ENST00000566786.5:c.2880+4C= ENSP00000457552.1:n.2880+4C=
ENST00000569002.1:n.287+4C=
NM_000339.2:c.2883+4C= NP_000330.2:n.2883+4C=
NM_001126107.1:c.2880+4C= NP_001119579.1:n.2880+4C=
NM_001126108.1:c.2856+4C= NP_001119580.1:n.2856+4C=
XM_005256119.1:c.2853+4C= XP_005256176.1:n.2853+4C=
XM_005256119.2:c.2853+4C= XP_005256176.1:n.2853+4C=
NM_000339.3:c.2883+4C= NP_000330.3:n.2883+4C=
NM_001126107.2:c.2880+4C= NP_001119579.2:n.2880+4C=
NM_001126108.2:c.2856+4C= MANE Select NP_001119580.2:n.2856+4C=