Canonical Allele Identifier: CA7546838

Gene: SLC12A1

Linked Data

• ClinVar Variation Id: 2074927
• ClinVar RCV Id: RCV002963148 ; RCV004065069
• dbSNP Id: rs568245443
• ExAC: 15:48518733 C / T
• gnomAD v2: 15-48518733-C-T
• gnomAD v3: 15-48226536-C-T
• gnomAD v4: 15-48226536-C-T
• MyVariant Identifiers: chr15:g.48518733C>T (hg19) ; chr15:g.48226536C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48226536C>T , CM000677.2:g.48226536C>T	GRCh38
NC_000015.9:g.48518733C>T , CM000677.1:g.48518733C>T	GRCh37
NC_000015.8:g.46306025C>T	NCBI36
NG_021301.1:g.25236C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.724+589C>T	ENSP00000508901.1:n.724+589C>T
ENST00000380993.8:c.689C>T MANE Select	ENSP00000370381.3:p.Thr230Ile
ENST00000646012.1:c.827C>T	ENSP00000495813.1:p.Thr276Ile
ENST00000647232.1:c.629-543C>T	ENSP00000493875.1:n.629-543C>T
ENST00000647546.1:c.689C>T	ENSP00000495332.1:p.Thr230Ile
ENST00000330289.10:c.689C>T	ENSP00000331550.6:p.Thr230Ile
ENST00000380993.7:c.689C>T	ENSP00000370381.3:p.Thr230Ile
ENST00000396577.7:c.629-543C>T	ENSP00000379822.3:n.629-543C>T
ENST00000558252.5:n.4209C>T
ENST00000558405.5:c.689C>T	ENSP00000453409.1:p.Thr230Ile
ENST00000559641.5:c.128C>T	ENSP00000453230.1:p.Thr43Ile
ENST00000559723.2:n.97+589C>T
ENST00000560692.5:n.2211C>T
ENST00000561127.5:c.128C>T	ENSP00000453602.2:p.Thr43Ile
NM_000338.2:c.689C>T	NP_000329.2:p.Thr230Ile
NM_001184832.1:c.629-543C>T	NP_001171761.1:n.629-543C>T
XM_005254605.1:c.689C>T	XP_005254662.1:p.Thr230Ile
XM_005254606.1:c.724+589C>T	XP_005254663.1:n.724+589C>T
XM_006720656.1:c.689C>T	XP_006720719.1:p.Thr230Ile
XR_931896.1:n.905C>T
XM_005254606.2:c.724+589C>T	XP_005254663.1:n.724+589C>T
XR_001751524.2:n.363+925G>A
XR_001751525.1:n.363+925G>A
XR_002957762.1:n.363+925G>A
XR_932204.3:n.357+925G>A
NM_000338.3:c.689C>T MANE Select	NP_000329.2:p.Thr230Ile
NM_001184832.2:c.629-543C>T	NP_001171761.1:n.629-543C>T
NM_001384136.1:c.724+589C>T	NP_001371065.1:n.724+589C>T