Canonical Allele Identifier: CA495602879

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 2850123
• ClinVar RCV Id: RCV003688152
• gnomAD v4: 16-56869731-C-T
• MyVariant Identifiers: chr16:g.56903643C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56869731C>T , CM000678.2:g.56869731C>T	GRCh38
NC_000016.9:g.56903643C>T , CM000678.1:g.56903643C>T	GRCh37
NC_000016.8:g.55461144C>T	NCBI36
NG_009386.1:g.9525C>T
NG_009386.2:g.9525C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.508C>T MANE Select	ENSP00000456149.2:p.Leu170=
ENST00000262502.5:c.505C>T	ENSP00000262502.5:p.Leu169=
ENST00000438926.6:c.508C>T	ENSP00000402152.2:p.Leu170=
ENST00000563236.5:c.508C>T	ENSP00000456149.1:p.Leu170=
ENST00000566786.5:c.505C>T	ENSP00000457552.1:p.Leu169=
NM_000339.2:c.508C>T	NP_000330.2:p.Leu170=
NM_001126107.1:c.505C>T	NP_001119579.1:p.Leu169=
NM_001126108.1:c.508C>T	NP_001119580.1:p.Leu170=
XM_005256119.1:c.505C>T	XP_005256176.1:p.Leu169=
XM_005256119.2:c.505C>T	XP_005256176.1:p.Leu169=
NM_000339.3:c.508C>T	NP_000330.3:p.Leu170=
NM_001126107.2:c.505C>T	NP_001119579.2:p.Leu169=
NM_001126108.2:c.508C>T MANE Select	NP_001119580.2:p.Leu170=