Canonical Allele Identifier: CA722010356

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1490122090
• gnomAD v3: 16-56884487-TC-T
• gnomAD v4: 16-56884487-TC-T
• MyVariant Identifiers: chr16:g.56918400del (hg19) ; chr16:g.56884488del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884490del , CM000678.2:g.56884490del	GRCh38
NC_000016.9:g.56918402del , CM000678.1:g.56918402del	GRCh37
NC_000016.8:g.55475903del	NCBI36
NG_009386.1:g.24284del
NG_009386.2:g.24284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1825+286del MANE Select	ENSP00000456149.2:n.1825+286del
ENST00000262502.5:c.1822+286del	ENSP00000262502.5:n.1822+286del
ENST00000438926.6:c.1825+286del	ENSP00000402152.2:n.1825+286del
ENST00000563236.5:c.1825+286del	ENSP00000456149.1:n.1825+286del
ENST00000566786.5:c.1822+286del	ENSP00000457552.1:n.1822+286del
NM_000339.2:c.1825+286del	NP_000330.2:n.1825+286del
NM_001126107.1:c.1822+286del	NP_001119579.1:n.1822+286del
NM_001126108.1:c.1825+286del	NP_001119580.1:n.1825+286del
XM_005256119.1:c.1822+286del	XP_005256176.1:n.1822+286del
XM_005256119.2:c.1822+286del	XP_005256176.1:n.1822+286del
NM_000339.3:c.1825+286del	NP_000330.3:n.1825+286del
NM_001126107.2:c.1822+286del	NP_001119579.2:n.1822+286del
NM_001126108.2:c.1825+286del MANE Select	NP_001119580.2:n.1825+286del