Canonical Allele Identifier: CA2499223589
Gene: SLC12A3 HGNC NCBI

Linked Data

dbSNP Id: rs2144690944
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56870675_56870676delinsGT , CM000678.2:g.56870675_56870676delinsGT GRCh38
NC_000016.9:g.56904587_56904588delinsGT , CM000678.1:g.56904587_56904588delinsGT GRCh37
NC_000016.8:g.55462088_55462089delinsGT NCBI36
NG_009386.2:g.10469_10470delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000563236.6:c.791_792delinsGT MANE Select ENSP00000456149.2:p.Ala264Gly
ENST00000262502.5:c.788_789delinsGT ENSP00000262502.5:p.Ala263Gly
ENST00000438926.6:c.791_792delinsGT ENSP00000402152.2:p.Ala264Gly
ENST00000563236.5:c.791_792delinsGT ENSP00000456149.1:p.Ala264Gly
ENST00000566786.5:c.788_789delinsGT ENSP00000457552.1:p.Ala263Gly
XM_005256119.1:c.788_789delinsGT XP_005256176.1:p.Ala263Gly
XM_005256119.2:c.788_789delinsGT XP_005256176.1:p.Ala263Gly
NM_000339.3:c.791_792delinsGT NP_000330.3:p.Ala264Gly
NM_001126107.2:c.788_789delinsGT NP_001119579.2:p.Ala263Gly
NM_001126108.2:c.791_792delinsGT MANE Select NP_001119580.2:p.Ala264Gly
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