Canonical Allele Identifier: CA2224357180
Gene: SLC12A3 HGNC NCBI

Linked Data

dbSNP Id: rs2055310190

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56886356dup , CM000678.2:g.56886356dup GRCh38
NC_000016.9:g.56920268dup , CM000678.1:g.56920268dup GRCh37
NC_000016.8:g.55477769dup NCBI36
NG_009386.1:g.26150dup
NG_009386.2:g.26150dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.1926-8dup MANE Select ENSP00000456149.2:n.1926-8dup
ENST00000262502.5:c.1923-8dup ENSP00000262502.5:n.1923-8dup
ENST00000438926.6:c.1926-8dup ENSP00000402152.2:n.1926-8dup
ENST00000563236.5:c.1926-8dup ENSP00000456149.1:n.1926-8dup
ENST00000566786.5:c.1923-8dup ENSP00000457552.1:n.1923-8dup
NM_000339.2:c.1926-8dup NP_000330.2:n.1926-8dup
NM_001126107.1:c.1923-8dup NP_001119579.1:n.1923-8dup
NM_001126108.1:c.1926-8dup NP_001119580.1:n.1926-8dup
XM_005256119.1:c.1923-8dup XP_005256176.1:n.1923-8dup
XM_005256119.2:c.1923-8dup XP_005256176.1:n.1923-8dup
NM_000339.3:c.1926-8dup NP_000330.3:n.1926-8dup
NM_001126107.2:c.1923-8dup NP_001119579.2:n.1923-8dup
NM_001126108.2:c.1926-8dup MANE Select NP_001119580.2:n.1926-8dup