Canonical Allele Identifier: CA395980724

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 635427
• ClinVar RCV Id: RCV000786876
• dbSNP Id: rs1596890176
• gnomAD v4: 16-56869732-T-C
• MyVariant Identifiers: chr16:g.56903644T>C (hg19) ; chr16:g.56869732T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56869732T>C , CM000678.2:g.56869732T>C	GRCh38
NC_000016.9:g.56903644T>C , CM000678.1:g.56903644T>C	GRCh37
NC_000016.8:g.55461145T>C	NCBI36
NG_009386.1:g.9526T>C
NG_009386.2:g.9526T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.509T>C MANE Select	ENSP00000456149.2:p.Leu170Pro
ENST00000262502.5:c.506T>C	ENSP00000262502.5:p.Leu169Pro
ENST00000438926.6:c.509T>C	ENSP00000402152.2:p.Leu170Pro
ENST00000563236.5:c.509T>C	ENSP00000456149.1:p.Leu170Pro
ENST00000566786.5:c.506T>C	ENSP00000457552.1:p.Leu169Pro
NM_000339.2:c.509T>C	NP_000330.2:p.Leu170Pro
NM_001126107.1:c.506T>C	NP_001119579.1:p.Leu169Pro
NM_001126108.1:c.509T>C	NP_001119580.1:p.Leu170Pro
XM_005256119.1:c.506T>C	XP_005256176.1:p.Leu169Pro
XM_005256119.2:c.506T>C	XP_005256176.1:p.Leu169Pro
NM_000339.3:c.509T>C	NP_000330.3:p.Leu170Pro
NM_001126107.2:c.506T>C	NP_001119579.2:p.Leu169Pro
NM_001126108.2:c.509T>C MANE Select	NP_001119580.2:p.Leu170Pro