Canonical Allele Identifier: CA8070182

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 319922
• ClinVar RCV Id: RCV000261759 ; RCV002522874
• dbSNP Id: rs201058248
• ExAC: 16:56947238 C / A
• gnomAD v2: 16-56947238-C-A
• gnomAD v3: 16-56913326-C-A
• gnomAD v4: 16-56913326-C-A
• MyVariant Identifiers: chr16:g.56947238C>A (hg19) ; chr16:g.56913326C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56913326C>A , CM000678.2:g.56913326C>A	GRCh38
NC_000016.9:g.56947238C>A , CM000678.1:g.56947238C>A	GRCh37
NC_000016.8:g.55504739C>A	NCBI36
NG_009386.1:g.53120C>A
NG_009386.2:g.53120C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2987C>A MANE Select	ENSP00000456149.2:p.Thr996Asn
ENST00000262502.5:c.2984C>A	ENSP00000262502.5:p.Thr995Asn
ENST00000438926.6:c.3014C>A	ENSP00000402152.2:p.Thr1005Asn
ENST00000563236.5:c.2987C>A	ENSP00000456149.1:p.Thr996Asn
ENST00000563352.1:n.135C>A
ENST00000566786.5:c.3011C>A	ENSP00000457552.1:p.Thr1004Asn
NM_000339.2:c.3014C>A	NP_000330.2:p.Thr1005Asn
NM_001126107.1:c.3011C>A	NP_001119579.1:p.Thr1004Asn
NM_001126108.1:c.2987C>A	NP_001119580.1:p.Thr996Asn
XM_005256119.1:c.2984C>A	XP_005256176.1:p.Thr995Asn
XM_005256119.2:c.2984C>A	XP_005256176.1:p.Thr995Asn
NM_000339.3:c.3014C>A	NP_000330.3:p.Thr1005Asn
NM_001126107.2:c.3011C>A	NP_001119579.2:p.Thr1004Asn
NM_001126108.2:c.2987C>A MANE Select	NP_001119580.2:p.Thr996Asn