Canonical Allele Identifier: CA2175391112
Gene: SLC12A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48226260G= , CM000677.2:g.48226260G= GRCh38
NC_000015.9:g.48518457G= , CM000677.1:g.48518457G= GRCh37
NC_000015.8:g.46305749G= NCBI36
NG_021301.1:g.24960G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686073.1:c.724+313G= ENSP00000508901.1:n.724+313G=
ENST00000380993.8:c.629-216G= MANE Select ENSP00000370381.3:n.629-216G=
ENST00000646012.1:c.767-216G= ENSP00000495813.1:n.767-216G=
ENST00000647232.1:c.629-819G= ENSP00000493875.1:n.629-819G=
ENST00000647546.1:c.629-216G= ENSP00000495332.1:n.629-216G=
ENST00000330289.10:c.629-216G= ENSP00000331550.6:n.629-216G=
ENST00000380993.7:c.629-216G= ENSP00000370381.3:n.629-216G=
ENST00000396577.7:c.629-819G= ENSP00000379822.3:n.629-819G=
ENST00000558252.5:n.3933G=
ENST00000558405.5:c.629-216G= ENSP00000453409.1:n.629-216G=
ENST00000559641.5:c.68-216G= ENSP00000453230.1:n.68-216G=
ENST00000559723.2:n.97+313G=
ENST00000560692.5:n.1935G=
ENST00000561127.5:c.68-216G= ENSP00000453602.2:n.68-216G=
NM_000338.2:c.629-216G= NP_000329.2:n.629-216G=
NM_001184832.1:c.629-819G= NP_001171761.1:n.629-819G=
XM_005254605.1:c.629-216G= XP_005254662.1:n.629-216G=
XM_005254606.1:c.724+313G= XP_005254663.1:n.724+313G=
XM_006720656.1:c.629-216G= XP_006720719.1:n.629-216G=
XR_931896.1:n.845-216G=
XM_005254606.2:c.724+313G= XP_005254663.1:n.724+313G=
XR_001751524.2:n.364-727C=
XR_001751525.1:n.364-727C=
XR_002957762.1:n.364-727C=
XR_932204.3:n.358-727C=
NM_000338.3:c.629-216G= MANE Select NP_000329.2:n.629-216G=
NM_001184832.2:c.629-819G= NP_001171761.1:n.629-819G=
NM_001384136.1:c.724+313G= NP_001371065.1:n.724+313G=