Canonical Allele Identifier: CA8069578

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 319905
• ClinVar RCV Id: RCV000405977 ; RCV002521054
• dbSNP Id: rs142414514
• ExAC: 16:56917987 A / T
• gnomAD v2: 16-56917987-A-T
• gnomAD v3: 16-56884075-A-T
• gnomAD v4: 16-56884075-A-T
• MyVariant Identifiers: chr16:g.56917987A>T (hg19) ; chr16:g.56884075A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884075A>T , CM000678.2:g.56884075A>T	GRCh38
NC_000016.9:g.56917987A>T , CM000678.1:g.56917987A>T	GRCh37
NC_000016.8:g.55475488A>T	NCBI36
NG_009386.1:g.23869A>T
NG_009386.2:g.23869A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1696A>T MANE Select	ENSP00000456149.2:p.Asn566Tyr
ENST00000262502.5:c.1693A>T	ENSP00000262502.5:p.Asn565Tyr
ENST00000438926.6:c.1696A>T	ENSP00000402152.2:p.Asn566Tyr
ENST00000563236.5:c.1696A>T	ENSP00000456149.1:p.Asn566Tyr
ENST00000566786.5:c.1693A>T	ENSP00000457552.1:p.Asn565Tyr
NM_000339.2:c.1696A>T	NP_000330.2:p.Asn566Tyr
NM_001126107.1:c.1693A>T	NP_001119579.1:p.Asn565Tyr
NM_001126108.1:c.1696A>T	NP_001119580.1:p.Asn566Tyr
XM_005256119.1:c.1693A>T	XP_005256176.1:p.Asn565Tyr
XM_005256119.2:c.1693A>T	XP_005256176.1:p.Asn565Tyr
NM_000339.3:c.1696A>T	NP_000330.3:p.Asn566Tyr
NM_001126107.2:c.1693A>T	NP_001119579.2:p.Asn565Tyr
NM_001126108.2:c.1696A>T MANE Select	NP_001119580.2:p.Asn566Tyr