Canonical Allele Identifier: CA8069421

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 1497328
• ClinVar RCV Id: RCV002019805
• dbSNP Id: rs775232139
• ExAC: 16:56913130 C / G
• gnomAD v2: 16-56913130-C-G
• gnomAD v3: 16-56879218-C-G
• gnomAD v4: 16-56879218-C-G
• MyVariant Identifiers: chr16:g.56913130C>G (hg19) ; chr16:g.56879218C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879218C>G , CM000678.2:g.56879218C>G	GRCh38
NC_000016.9:g.56913130C>G , CM000678.1:g.56913130C>G	GRCh37
NC_000016.8:g.55470631C>G	NCBI36
NG_009386.1:g.19012C>G
NG_009386.2:g.19012C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1326C>G MANE Select	ENSP00000456149.2:p.Asn442Lys
ENST00000262502.5:c.1323C>G	ENSP00000262502.5:p.Asn441Lys
ENST00000438926.6:c.1326C>G	ENSP00000402152.2:p.Asn442Lys
ENST00000563236.5:c.1326C>G	ENSP00000456149.1:p.Asn442Lys
ENST00000566786.5:c.1323C>G	ENSP00000457552.1:p.Asn441Lys
NM_000339.2:c.1326C>G	NP_000330.2:p.Asn442Lys
NM_001126107.1:c.1323C>G	NP_001119579.1:p.Asn441Lys
NM_001126108.1:c.1326C>G	NP_001119580.1:p.Asn442Lys
XM_005256119.1:c.1323C>G	XP_005256176.1:p.Asn441Lys
XM_005256119.2:c.1323C>G	XP_005256176.1:p.Asn441Lys
NM_000339.3:c.1326C>G	NP_000330.3:p.Asn442Lys
NM_001126107.2:c.1323C>G	NP_001119579.2:p.Asn441Lys
NM_001126108.2:c.1326C>G MANE Select	NP_001119580.2:p.Asn442Lys