Canonical Allele Identifier: CA216070

Gene: SLC12A1

Linked Data

• ClinVar Variation Id: 64404
• ClinVar RCV Id: RCV000054591
• dbSNP Id: rs368339306
• ExAC: 15:48527135 C / T
• gnomAD v2: 15-48527135-C-T
• gnomAD v3: 15-48234938-C-T
• gnomAD v4: 15-48234938-C-T
• MyVariant Identifiers: chr15:g.48527135C>T (hg19) ; chr15:g.48234938C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48234938C>T , CM000677.2:g.48234938C>T	GRCh38
NC_000015.9:g.48527135C>T , CM000677.1:g.48527135C>T	GRCh37
NC_000015.8:g.46314427C>T	NCBI36
NG_021301.1:g.33638C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.1149C>T	ENSP00000508901.1:p.Val383=
ENST00000380993.8:c.1149C>T MANE Select	ENSP00000370381.3:p.Val383=
ENST00000646012.1:c.1287C>T	ENSP00000495813.1:p.Val429=
ENST00000647232.1:c.1149C>T	ENSP00000493875.1:p.Val383=
ENST00000647546.1:c.1149C>T	ENSP00000495332.1:p.Val383=
ENST00000330289.10:c.1149C>T	ENSP00000331550.6:p.Val383=
ENST00000380993.7:c.1149C>T	ENSP00000370381.3:p.Val383=
ENST00000396577.7:c.1149C>T	ENSP00000379822.3:p.Val383=
ENST00000558252.5:n.5272C>T
ENST00000558405.5:c.1149C>T	ENSP00000453409.1:p.Val383=
ENST00000558805.1:c.176C>T
ENST00000559641.5:c.588C>T	ENSP00000453230.1:p.Val196=
ENST00000560692.5:n.5288C>T
NM_000338.2:c.1149C>T	NP_000329.2:p.Val383=
NM_001184832.1:c.1149C>T	NP_001171761.1:p.Val383=
XM_005254605.1:c.1245C>T	XP_005254662.1:p.Val415=
XM_005254606.1:c.1149C>T	XP_005254663.1:p.Val383=
XM_006720656.1:c.1245C>T	XP_006720719.1:p.Val415=
XR_931896.1:n.1461C>T
XM_005254606.2:c.1149C>T	XP_005254663.1:p.Val383=
NM_000338.3:c.1149C>T MANE Select	NP_000329.2:p.Val383=
NM_001184832.2:c.1149C>T	NP_001171761.1:p.Val383=
NM_001384136.1:c.1149C>T	NP_001371065.1:p.Val383=