Canonical Allele Identifier: CA7546900
Gene: SLC12A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2230832
ClinVar RCV Id: RCV002703022
dbSNP Id: rs552688153

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48229230T>C , CM000677.2:g.48229230T>C GRCh38
NC_000015.9:g.48521427T>C , CM000677.1:g.48521427T>C GRCh37
NC_000015.8:g.46308719T>C NCBI36
NG_021301.1:g.27930T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000686073.1:c.766T>C ENSP00000508901.1:p.Phe256Leu
ENST00000380993.8:c.766T>C MANE Select ENSP00000370381.3:p.Phe256Leu
ENST00000646012.1:c.904T>C ENSP00000495813.1:p.Phe302Leu
ENST00000647232.1:c.766T>C ENSP00000493875.1:p.Phe256Leu
ENST00000647546.1:c.766T>C ENSP00000495332.1:p.Phe256Leu
ENST00000330289.10:c.766T>C ENSP00000331550.6:p.Phe256Leu
ENST00000380993.7:c.766T>C ENSP00000370381.3:p.Phe256Leu
ENST00000396577.7:c.766T>C ENSP00000379822.3:p.Phe256Leu
ENST00000558252.5:n.4889T>C
ENST00000558405.5:c.766T>C ENSP00000453409.1:p.Phe256Leu
ENST00000559641.5:c.205T>C ENSP00000453230.1:p.Phe69Leu
ENST00000559723.2:n.139T>C
ENST00000560692.5:n.4905T>C
ENST00000561127.5:c.205T>C ENSP00000453602.2:p.Phe69Leu
NM_000338.2:c.766T>C NP_000329.2:p.Phe256Leu
NM_001184832.1:c.766T>C NP_001171761.1:p.Phe256Leu
XM_005254605.1:c.862T>C XP_005254662.1:p.Phe288Leu
XM_005254606.1:c.766T>C XP_005254663.1:p.Phe256Leu
XM_006720656.1:c.862T>C XP_006720719.1:p.Phe288Leu
XR_931896.1:n.1078T>C
XR_932203.1:n.229+726A>G
XR_932204.1:n.222+726A>G
XM_005254606.2:c.766T>C XP_005254663.1:p.Phe256Leu
XR_001751524.2:n.230+726A>G
XR_001751525.1:n.230+726A>G
XR_002957762.1:n.230+726A>G
XR_932204.3:n.224+726A>G
NM_000338.3:c.766T>C MANE Select NP_000329.2:p.Phe256Leu
NM_001184832.2:c.766T>C NP_001171761.1:p.Phe256Leu
NM_001384136.1:c.766T>C NP_001371065.1:p.Phe256Leu