Canonical Allele Identifier: CA2224358034
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56887887T= , CM000678.2:g.56887887T= GRCh38
NC_000016.9:g.56921799T= , CM000678.1:g.56921799T= GRCh37
NC_000016.8:g.55479300T= NCBI36
NG_009386.1:g.27681T=
NG_009386.2:g.27681T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.2179-38T= MANE Select ENSP00000456149.2:n.2179-38T=
ENST00000262502.5:c.2176-38T= ENSP00000262502.5:n.2176-38T=
ENST00000438926.6:c.2179-38T= ENSP00000402152.2:n.2179-38T=
ENST00000563236.5:c.2179-38T= ENSP00000456149.1:n.2179-38T=
ENST00000566786.5:c.2176-38T= ENSP00000457552.1:n.2176-38T=
NM_000339.2:c.2179-38T= NP_000330.2:n.2179-38T=
NM_001126107.1:c.2176-38T= NP_001119579.1:n.2176-38T=
NM_001126108.1:c.2179-38T= NP_001119580.1:n.2179-38T=
XM_005256119.1:c.2176-38T= XP_005256176.1:n.2176-38T=
XM_005256119.2:c.2176-38T= XP_005256176.1:n.2176-38T=
NM_000339.3:c.2179-38T= NP_000330.3:n.2179-38T=
NM_001126107.2:c.2176-38T= NP_001119579.2:n.2176-38T=
NM_001126108.2:c.2179-38T= MANE Select NP_001119580.2:n.2179-38T=