Canonical Allele Identifier: CA8069604

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 886418
• ClinVar RCV Id: RCV001118612 ; RCV004032210
• dbSNP Id: rs201432183
• ExAC: 16:56918074 G / A
• gnomAD v2: 16-56918074-G-A
• gnomAD v3: 16-56884162-G-A
• gnomAD v4: 16-56884162-G-A
• MyVariant Identifiers: chr16:g.56918074G>A (hg19) ; chr16:g.56884162G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884162G>A , CM000678.2:g.56884162G>A	GRCh38
NC_000016.9:g.56918074G>A , CM000678.1:g.56918074G>A	GRCh37
NC_000016.8:g.55475575G>A	NCBI36
NG_009386.1:g.23956G>A
NG_009386.2:g.23956G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1783G>A MANE Select	ENSP00000456149.2:p.Val595Met
ENST00000262502.5:c.1780G>A	ENSP00000262502.5:p.Val594Met
ENST00000438926.6:c.1783G>A	ENSP00000402152.2:p.Val595Met
ENST00000563236.5:c.1783G>A	ENSP00000456149.1:p.Val595Met
ENST00000566786.5:c.1780G>A	ENSP00000457552.1:p.Val594Met
NM_000339.2:c.1783G>A	NP_000330.2:p.Val595Met
NM_001126107.1:c.1780G>A	NP_001119579.1:p.Val594Met
NM_001126108.1:c.1783G>A	NP_001119580.1:p.Val595Met
XM_005256119.1:c.1780G>A	XP_005256176.1:p.Val594Met
XM_005256119.2:c.1780G>A	XP_005256176.1:p.Val594Met
NM_000339.3:c.1783G>A	NP_000330.3:p.Val595Met
NM_001126107.2:c.1780G>A	NP_001119579.2:p.Val594Met
NM_001126108.2:c.1783G>A MANE Select	NP_001119580.2:p.Val595Met