Canonical Allele Identifier: CA713384637

Gene: SLC12A1

Linked Data

• ClinVar Variation Id: 3023025
• ClinVar RCV Id: RCV003882211
• dbSNP Id: rs1301196097
• gnomAD v4: 15-48229340-C-T
• MyVariant Identifiers: chr15:g.48521537C>T (hg19) ; chr15:g.48229340C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229340C>T , CM000677.2:g.48229340C>T	GRCh38
NC_000015.9:g.48521537C>T , CM000677.1:g.48521537C>T	GRCh37
NC_000015.8:g.46308829C>T	NCBI36
NG_021301.1:g.28040C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.864+12C>T	ENSP00000508901.1:n.864+12C>T
ENST00000380993.8:c.864+12C>T MANE Select	ENSP00000370381.3:n.864+12C>T
ENST00000646012.1:c.1002+12C>T	ENSP00000495813.1:n.1002+12C>T
ENST00000647232.1:c.864+12C>T	ENSP00000493875.1:n.864+12C>T
ENST00000647546.1:c.864+12C>T	ENSP00000495332.1:n.864+12C>T
ENST00000330289.10:c.864+12C>T	ENSP00000331550.6:n.864+12C>T
ENST00000380993.7:c.864+12C>T	ENSP00000370381.3:n.864+12C>T
ENST00000396577.7:c.864+12C>T	ENSP00000379822.3:n.864+12C>T
ENST00000558252.5:n.4987+12C>T
ENST00000558405.5:c.864+12C>T	ENSP00000453409.1:n.864+12C>T
ENST00000559641.5:c.303+12C>T	ENSP00000453230.1:n.303+12C>T
ENST00000559723.2:n.237+12C>T
ENST00000560692.5:n.5003+12C>T
ENST00000561127.5:c.303+12C>T	ENSP00000453602.2:n.303+12C>T
NM_000338.2:c.864+12C>T	NP_000329.2:n.864+12C>T
NM_001184832.1:c.864+12C>T	NP_001171761.1:n.864+12C>T
XM_005254605.1:c.960+12C>T	XP_005254662.1:n.960+12C>T
XM_005254606.1:c.864+12C>T	XP_005254663.1:n.864+12C>T
XM_006720656.1:c.960+12C>T	XP_006720719.1:n.960+12C>T
XR_931896.1:n.1176+12C>T
XR_932203.1:n.229+616G>A
XR_932204.1:n.222+616G>A
XM_005254606.2:c.864+12C>T	XP_005254663.1:n.864+12C>T
XR_001751524.2:n.230+616G>A
XR_001751525.1:n.230+616G>A
XR_002957762.1:n.230+616G>A
XR_932204.3:n.224+616G>A
NM_000338.3:c.864+12C>T MANE Select	NP_000329.2:n.864+12C>T
NM_001184832.2:c.864+12C>T	NP_001171761.1:n.864+12C>T
NM_001384136.1:c.864+12C>T	NP_001371065.1:n.864+12C>T