Canonical Allele Identifier: CA8070078

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 1581890
• ClinVar RCV Id: RCV002088648
• dbSNP Id: rs777687368
• ExAC: 16:56936429 A / G
• gnomAD v2: 16-56936429-A-G
• gnomAD v3: 16-56902517-A-G
• gnomAD v4: 16-56902517-A-G
• MyVariant Identifiers: chr16:g.56936429A>G (hg19) ; chr16:g.56902517A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902517A>G , CM000678.2:g.56902517A>G	GRCh38
NC_000016.9:g.56936429A>G , CM000678.1:g.56936429A>G	GRCh37
NC_000016.8:g.55493930A>G	NCBI36
NG_009386.1:g.42311A>G
NG_009386.2:g.42311A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2856+9A>G MANE Select	ENSP00000456149.2:n.2856+9A>G
ENST00000262502.5:c.2853+9A>G	ENSP00000262502.5:n.2853+9A>G
ENST00000438926.6:c.2883+9A>G	ENSP00000402152.2:n.2883+9A>G
ENST00000563236.5:c.2856+9A>G	ENSP00000456149.1:n.2856+9A>G
ENST00000566786.5:c.2880+9A>G	ENSP00000457552.1:n.2880+9A>G
ENST00000569002.1:n.287+9A>G
NM_000339.2:c.2883+9A>G	NP_000330.2:n.2883+9A>G
NM_001126107.1:c.2880+9A>G	NP_001119579.1:n.2880+9A>G
NM_001126108.1:c.2856+9A>G	NP_001119580.1:n.2856+9A>G
XM_005256119.1:c.2853+9A>G	XP_005256176.1:n.2853+9A>G
XM_005256119.2:c.2853+9A>G	XP_005256176.1:n.2853+9A>G
NM_000339.3:c.2883+9A>G	NP_000330.3:n.2883+9A>G
NM_001126107.2:c.2880+9A>G	NP_001119579.2:n.2880+9A>G
NM_001126108.2:c.2856+9A>G MANE Select	NP_001119580.2:n.2856+9A>G