Canonical Allele Identifier: CA8069164

Gene: SLC12A3

Linked Data

• dbSNP Id: rs777084341
• ExAC: 16:56904140 T / C
• gnomAD v2: 16-56904140-T-C
• gnomAD v3: 16-56870228-T-C
• gnomAD v4: 16-56870228-T-C
• MyVariant Identifiers: chr16:g.56904140T>C (hg19) ; chr16:g.56870228T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870228T>C , CM000678.2:g.56870228T>C	GRCh38
NC_000016.9:g.56904140T>C , CM000678.1:g.56904140T>C	GRCh37
NC_000016.8:g.55461641T>C	NCBI36
NG_009386.1:g.10022T>C
NG_009386.2:g.10022T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.734T>C MANE Select	ENSP00000456149.2:p.Leu245Pro
ENST00000262502.5:c.731T>C	ENSP00000262502.5:p.Leu244Pro
ENST00000438926.6:c.734T>C	ENSP00000402152.2:p.Leu245Pro
ENST00000563236.5:c.734T>C	ENSP00000456149.1:p.Leu245Pro
ENST00000566786.5:c.731T>C	ENSP00000457552.1:p.Leu244Pro
NM_000339.2:c.734T>C	NP_000330.2:p.Leu245Pro
NM_001126107.1:c.731T>C	NP_001119579.1:p.Leu244Pro
NM_001126108.1:c.734T>C	NP_001119580.1:p.Leu245Pro
XM_005256119.1:c.731T>C	XP_005256176.1:p.Leu244Pro
XM_005256119.2:c.731T>C	XP_005256176.1:p.Leu244Pro
NM_000339.3:c.734T>C	NP_000330.3:p.Leu245Pro
NM_001126107.2:c.731T>C	NP_001119579.2:p.Leu244Pro
NM_001126108.2:c.734T>C MANE Select	NP_001119580.2:p.Leu245Pro