Canonical Allele Identifier: CA395981135

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 2506183
• ClinVar RCV Id: RCV003236414
• gnomAD v4: 16-56869804-C-T
• MyVariant Identifiers: chr16:g.56903716C>T (hg19) ; chr16:g.56869804C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56869804C>T , CM000678.2:g.56869804C>T	GRCh38
NC_000016.9:g.56903716C>T , CM000678.1:g.56903716C>T	GRCh37
NC_000016.8:g.55461217C>T	NCBI36
NG_009386.1:g.9598C>T
NG_009386.2:g.9598C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.581C>T MANE Select	ENSP00000456149.2:p.Thr194Ile
ENST00000262502.5:c.578C>T	ENSP00000262502.5:p.Thr193Ile
ENST00000438926.6:c.581C>T	ENSP00000402152.2:p.Thr194Ile
ENST00000563236.5:c.581C>T	ENSP00000456149.1:p.Thr194Ile
ENST00000566786.5:c.578C>T	ENSP00000457552.1:p.Thr193Ile
NM_000339.2:c.581C>T	NP_000330.2:p.Thr194Ile
NM_001126107.1:c.578C>T	NP_001119579.1:p.Thr193Ile
NM_001126108.1:c.581C>T	NP_001119580.1:p.Thr194Ile
XM_005256119.1:c.578C>T	XP_005256176.1:p.Thr193Ile
XM_005256119.2:c.578C>T	XP_005256176.1:p.Thr193Ile
NM_000339.3:c.581C>T	NP_000330.3:p.Thr194Ile
NM_001126107.2:c.578C>T	NP_001119579.2:p.Thr193Ile
NM_001126108.2:c.581C>T MANE Select	NP_001119580.2:p.Thr194Ile