Canonical Allele Identifier: CA2224361266
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56894639A= , CM000678.2:g.56894639A= GRCh38
NC_000016.9:g.56928551A= , CM000678.1:g.56928551A= GRCh37
NC_000016.8:g.55486052A= NCBI36
NG_009386.1:g.34433A=
NG_009386.2:g.34433A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.2630A= MANE Select ENSP00000456149.2:p.Lys877=
ENST00000262502.5:c.2627A= ENSP00000262502.5:p.Lys876=
ENST00000438926.6:c.2657A= ENSP00000402152.2:p.Lys886=
ENST00000563236.5:c.2630A= ENSP00000456149.1:p.Lys877=
ENST00000566786.5:c.2654A= ENSP00000457552.1:p.Lys885=
NM_000339.2:c.2657A= NP_000330.2:p.Lys886=
NM_001126107.1:c.2654A= NP_001119579.1:p.Lys885=
NM_001126108.1:c.2630A= NP_001119580.1:p.Lys877=
XM_005256119.1:c.2627A= XP_005256176.1:p.Lys876=
XM_005256119.2:c.2627A= XP_005256176.1:p.Lys876=
NM_000339.3:c.2657A= NP_000330.3:p.Lys886=
NM_001126107.2:c.2654A= NP_001119579.2:p.Lys885=
NM_001126108.2:c.2630A= MANE Select NP_001119580.2:p.Lys877=