Canonical Allele Identifier: CA2175393999
Gene: SLC12A1 HGNC NCBI

Linked Data

dbSNP Id: rs2041332770

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48229077T>C , CM000677.2:g.48229077T>C GRCh38
NC_000015.9:g.48521274T>C , CM000677.1:g.48521274T>C GRCh37
NC_000015.8:g.46308566T>C NCBI36
NG_021301.1:g.27777T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000686073.1:c.725-112T>C ENSP00000508901.1:n.725-112T>C
ENST00000380993.8:c.725-112T>C MANE Select ENSP00000370381.3:n.725-112T>C
ENST00000646012.1:c.863-112T>C ENSP00000495813.1:n.863-112T>C
ENST00000647232.1:c.725-112T>C ENSP00000493875.1:n.725-112T>C
ENST00000647546.1:c.725-112T>C ENSP00000495332.1:n.725-112T>C
ENST00000330289.10:c.725-112T>C ENSP00000331550.6:n.725-112T>C
ENST00000380993.7:c.725-112T>C ENSP00000370381.3:n.725-112T>C
ENST00000396577.7:c.725-112T>C ENSP00000379822.3:n.725-112T>C
ENST00000558252.5:n.4848-112T>C
ENST00000558405.5:c.725-112T>C ENSP00000453409.1:n.725-112T>C
ENST00000559641.5:c.164-112T>C ENSP00000453230.1:n.164-112T>C
ENST00000559723.2:n.98-112T>C
ENST00000560692.5:n.4752T>C
ENST00000561127.5:c.164-112T>C ENSP00000453602.2:n.164-112T>C
NM_000338.2:c.725-112T>C NP_000329.2:n.725-112T>C
NM_001184832.1:c.725-112T>C NP_001171761.1:n.725-112T>C
XM_005254605.1:c.821-112T>C XP_005254662.1:n.821-112T>C
XM_005254606.1:c.725-112T>C XP_005254663.1:n.725-112T>C
XM_006720656.1:c.821-112T>C XP_006720719.1:n.821-112T>C
XR_931896.1:n.1037-112T>C
XR_932203.1:n.229+879A>G
XR_932204.1:n.222+879A>G
XM_005254606.2:c.725-112T>C XP_005254663.1:n.725-112T>C
XR_001751524.2:n.230+879A>G
XR_001751525.1:n.230+879A>G
XR_002957762.1:n.230+879A>G
XR_932204.3:n.224+879A>G
NM_000338.3:c.725-112T>C MANE Select NP_000329.2:n.725-112T>C
NM_001184832.2:c.725-112T>C NP_001171761.1:n.725-112T>C
NM_001384136.1:c.725-112T>C NP_001371065.1:n.725-112T>C