Canonical Allele Identifier: CA658798606

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 522467
• ClinVar RCV Id: RCV000625608
• dbSNP Id: rs1555501632
• MyVariant Identifiers: chr16:g.56928497del (hg19) ; chr16:g.56894585del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894585del , CM000678.2:g.56894585del	GRCh38
NC_000016.9:g.56928497del , CM000678.1:g.56928497del	GRCh37
NC_000016.8:g.55485998del	NCBI36
NG_009386.1:g.34379del
NG_009386.2:g.34379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2576del MANE Select	ENSP00000456149.2:p.Cys859SerfsTer7
ENST00000262502.5:c.2573del	ENSP00000262502.5:p.Cys858SerfsTer7
ENST00000438926.6:c.2603del	ENSP00000402152.2:p.Cys868SerfsTer7
ENST00000563236.5:c.2576del	ENSP00000456149.1:p.Cys859SerfsTer7
ENST00000566786.5:c.2600del	ENSP00000457552.1:p.Cys867SerfsTer7
NM_000339.2:c.2603del	NP_000330.2:p.Cys868SerfsTer7
NM_001126107.1:c.2600del	NP_001119579.1:p.Cys867SerfsTer7
NM_001126108.1:c.2576del	NP_001119580.1:p.Cys859SerfsTer7
XM_005256119.1:c.2573del	XP_005256176.1:p.Cys858SerfsTer7
XM_005256119.2:c.2573del	XP_005256176.1:p.Cys858SerfsTer7
NM_000339.3:c.2603del	NP_000330.3:p.Cys868SerfsTer7
NM_001126107.2:c.2600del	NP_001119579.2:p.Cys867SerfsTer7
NM_001126108.2:c.2576del MANE Select	NP_001119580.2:p.Cys859SerfsTer7