Canonical Allele Identifier: CA250046

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 8584
• ClinVar RCV Id: RCV000009115 ; RCV000805008 ; RCV002512930 ; RCV003421914
• dbSNP Id: rs121909379
• ExAC: 16:56928470 T / C
• gnomAD v2: 16-56928470-T-C
• gnomAD v3: 16-56894558-T-C
• gnomAD v4: 16-56894558-T-C
• MyVariant Identifiers: chr16:g.56928470T>C (hg19) ; chr16:g.56894558T>C (hg38)
• PubMed: PMID:8528245 ; PMID:24088041 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894558T>C , CM000678.2:g.56894558T>C	GRCh38
NC_000016.9:g.56928470T>C , CM000678.1:g.56928470T>C	GRCh37
NC_000016.8:g.55485971T>C	NCBI36
NG_009386.1:g.34352T>C
NG_009386.2:g.34352T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2549T>C MANE Select	ENSP00000456149.2:p.Leu850Pro
ENST00000262502.5:c.2546T>C	ENSP00000262502.5:p.Leu849Pro
ENST00000438926.6:c.2576T>C	ENSP00000402152.2:p.Leu859Pro
ENST00000563236.5:c.2549T>C	ENSP00000456149.1:p.Leu850Pro
ENST00000566786.5:c.2573T>C	ENSP00000457552.1:p.Leu858Pro
NM_000339.2:c.2576T>C	NP_000330.2:p.Leu859Pro
NM_001126107.1:c.2573T>C	NP_001119579.1:p.Leu858Pro
NM_001126108.1:c.2549T>C	NP_001119580.1:p.Leu850Pro
XM_005256119.1:c.2546T>C	XP_005256176.1:p.Leu849Pro
XM_005256119.2:c.2546T>C	XP_005256176.1:p.Leu849Pro
NM_000339.3:c.2576T>C	NP_000330.3:p.Leu859Pro
NM_001126107.2:c.2573T>C	NP_001119579.2:p.Leu858Pro
NM_001126108.2:c.2549T>C MANE Select	NP_001119580.2:p.Leu850Pro