Canonical Allele Identifier: CA495604550

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 2804578
• ClinVar RCV Id: RCV003684152
• gnomAD v4: 16-56884128-C-T
• MyVariant Identifiers: chr16:g.56918040C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884128C>T , CM000678.2:g.56884128C>T	GRCh38
NC_000016.9:g.56918040C>T , CM000678.1:g.56918040C>T	GRCh37
NC_000016.8:g.55475541C>T	NCBI36
NG_009386.1:g.23922C>T
NG_009386.2:g.23922C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.1749C>T MANE Select	ENSP00000456149.2:p.Leu583=
ENST00000262502.5:c.1746C>T	ENSP00000262502.5:p.Leu582=
ENST00000438926.6:c.1749C>T	ENSP00000402152.2:p.Leu583=
ENST00000563236.5:c.1749C>T	ENSP00000456149.1:p.Leu583=
ENST00000566786.5:c.1746C>T	ENSP00000457552.1:p.Leu582=
NM_000339.2:c.1749C>T	NP_000330.2:p.Leu583=
NM_001126107.1:c.1746C>T	NP_001119579.1:p.Leu582=
NM_001126108.1:c.1749C>T	NP_001119580.1:p.Leu583=
XM_005256119.1:c.1746C>T	XP_005256176.1:p.Leu582=
XM_005256119.2:c.1746C>T	XP_005256176.1:p.Leu582=
NM_000339.3:c.1749C>T	NP_000330.3:p.Leu583=
NM_001126107.2:c.1746C>T	NP_001119579.2:p.Leu582=
NM_001126108.2:c.1749C>T MANE Select	NP_001119580.2:p.Leu583=