Canonical Allele Identifier: CA8069642

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 562346
• ClinVar RCV Id: RCV000681800 ; RCV001807314
• dbSNP Id: rs779160677
• ExAC: 16:56919195 C / T
• gnomAD v2: 16-56919195-C-T
• gnomAD v3: 16-56885283-C-T
• gnomAD v4: 16-56885283-C-T
• MyVariant Identifiers: chr16:g.56919195C>T (hg19) ; chr16:g.56885283C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56885283C>T , CM000678.2:g.56885283C>T	GRCh38
NC_000016.9:g.56919195C>T , CM000678.1:g.56919195C>T	GRCh37
NC_000016.8:g.55476696C>T	NCBI36
NG_009386.1:g.25077C>T
NG_009386.2:g.25077C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1844C>T MANE Select	ENSP00000456149.2:p.Ser615Leu
ENST00000262502.5:c.1841C>T	ENSP00000262502.5:p.Ser614Leu
ENST00000438926.6:c.1844C>T	ENSP00000402152.2:p.Ser615Leu
ENST00000563236.5:c.1844C>T	ENSP00000456149.1:p.Ser615Leu
ENST00000566786.5:c.1841C>T	ENSP00000457552.1:p.Ser614Leu
NM_000339.2:c.1844C>T	NP_000330.2:p.Ser615Leu
NM_001126107.1:c.1841C>T	NP_001119579.1:p.Ser614Leu
NM_001126108.1:c.1844C>T	NP_001119580.1:p.Ser615Leu
XM_005256119.1:c.1841C>T	XP_005256176.1:p.Ser614Leu
XM_005256119.2:c.1841C>T	XP_005256176.1:p.Ser614Leu
NM_000339.3:c.1844C>T	NP_000330.3:p.Ser615Leu
NM_001126107.2:c.1841C>T	NP_001119579.2:p.Ser614Leu
NM_001126108.2:c.1844C>T MANE Select	NP_001119580.2:p.Ser615Leu