Canonical Allele Identifier: CA396002223
Gene: SLC12A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56904399T>G , CM000678.2:g.56904399T>G GRCh38
NC_000016.9:g.56938311T>G , CM000678.1:g.56938311T>G GRCh37
NC_000016.8:g.55495812T>G NCBI36
NG_009386.1:g.44193T>G
NG_009386.2:g.44193T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.2861T>G MANE Select ENSP00000456149.2:p.Leu954Arg
ENST00000262502.5:c.2858T>G ENSP00000262502.5:p.Leu953Arg
ENST00000438926.6:c.2888T>G ENSP00000402152.2:p.Leu963Arg
ENST00000563236.5:c.2861T>G ENSP00000456149.1:p.Leu954Arg
ENST00000566786.5:c.2885T>G ENSP00000457552.1:p.Leu962Arg
ENST00000569002.1:n.292T>G
NM_000339.2:c.2888T>G NP_000330.2:p.Leu963Arg
NM_001126107.1:c.2885T>G NP_001119579.1:p.Leu962Arg
NM_001126108.1:c.2861T>G NP_001119580.1:p.Leu954Arg
XM_005256119.1:c.2858T>G XP_005256176.1:p.Leu953Arg
XM_005256119.2:c.2858T>G XP_005256176.1:p.Leu953Arg
NM_000339.3:c.2888T>G NP_000330.3:p.Leu963Arg
NM_001126107.2:c.2885T>G NP_001119579.2:p.Leu962Arg
NM_001126108.2:c.2861T>G MANE Select NP_001119580.2:p.Leu954Arg