Canonical Allele Identifier: CA8069576

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 255880
• ClinVar RCV Id: RCV000248179 ; RCV000338133 ; RCV001512561
• dbSNP Id: rs2304483
• ExAC: 16:56917953 T / C
• gnomAD v2: 16-56917953-T-C
• gnomAD v3: 16-56884041-T-C
• gnomAD v4: 16-56884041-T-C
• MyVariant Identifiers: chr16:g.56917953T>C (hg19) ; chr16:g.56884041T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884041T>C , CM000678.2:g.56884041T>C	GRCh38
NC_000016.9:g.56917953T>C , CM000678.1:g.56917953T>C	GRCh37
NC_000016.8:g.55475454T>C	NCBI36
NG_009386.1:g.23835T>C
NG_009386.2:g.23835T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.1670-8T>C MANE Select	ENSP00000456149.2:n.1670-8T>C
ENST00000262502.5:c.1667-8T>C	ENSP00000262502.5:n.1667-8T>C
ENST00000438926.6:c.1670-8T>C	ENSP00000402152.2:n.1670-8T>C
ENST00000563236.5:c.1670-8T>C	ENSP00000456149.1:n.1670-8T>C
ENST00000566786.5:c.1667-8T>C	ENSP00000457552.1:n.1667-8T>C
NM_000339.2:c.1670-8T>C	NP_000330.2:n.1670-8T>C
NM_001126107.1:c.1667-8T>C	NP_001119579.1:n.1667-8T>C
NM_001126108.1:c.1670-8T>C	NP_001119580.1:n.1670-8T>C
XM_005256119.1:c.1667-8T>C	XP_005256176.1:n.1667-8T>C
XM_005256119.2:c.1667-8T>C	XP_005256176.1:n.1667-8T>C
NM_000339.3:c.1670-8T>C	NP_000330.3:n.1670-8T>C
NM_001126107.2:c.1667-8T>C	NP_001119579.2:n.1667-8T>C
NM_001126108.2:c.1670-8T>C MANE Select	NP_001119580.2:n.1670-8T>C