Canonical Allele Identifier: CA10602714
Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 279587
ClinVar RCV Id: RCV000258950
dbSNP Id: rs886041108
MyVariant Identifiers: chr16:g.56913456del (hg19) chr16:g.56879544del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56879544del , CM000678.2:g.56879544del GRCh38
NC_000016.9:g.56913456del , CM000678.1:g.56913456del GRCh37
NC_000016.8:g.55470957del NCBI36
NG_009386.1:g.19338del
NG_009386.2:g.19338del

Transcript Alleles

HGVS Amino-acid change
ENST00000563236.6:c.1338del MANE Select ENSP00000456149.2:p.Met447Ter
ENST00000262502.5:c.1335del ENSP00000262502.5:p.Met446Ter
ENST00000438926.6:c.1338del ENSP00000402152.2:p.Met447Ter
ENST00000563236.5:c.1338del ENSP00000456149.1:p.Met447Ter
ENST00000566786.5:c.1335del ENSP00000457552.1:p.Met446Ter
NM_000339.2:c.1338del NP_000330.2:p.Met447Ter
NM_001126107.1:c.1335del NP_001119579.1:p.Met446Ter
NM_001126108.1:c.1338del NP_001119580.1:p.Met447Ter
XM_005256119.1:c.1335del XP_005256176.1:p.Met446Ter
XM_005256119.2:c.1335del XP_005256176.1:p.Met446Ter
NM_000339.3:c.1338del NP_000330.3:p.Met447Ter
NM_001126107.2:c.1335del NP_001119579.2:p.Met446Ter
NM_001126108.2:c.1338del MANE Select NP_001119580.2:p.Met447Ter
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