Canonical Allele Identifier: CA392306799
Gene: SLC12A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48229207T>A , CM000677.2:g.48229207T>A GRCh38
NC_000015.9:g.48521404T>A , CM000677.1:g.48521404T>A GRCh37
NC_000015.8:g.46308696T>A NCBI36
NG_021301.1:g.27907T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000686073.1:c.743T>A ENSP00000508901.1:p.Ile248Asn
ENST00000380993.8:c.743T>A MANE Select ENSP00000370381.3:p.Ile248Asn
ENST00000646012.1:c.881T>A ENSP00000495813.1:p.Ile294Asn
ENST00000647232.1:c.743T>A ENSP00000493875.1:p.Ile248Asn
ENST00000647546.1:c.743T>A ENSP00000495332.1:p.Ile248Asn
ENST00000330289.10:c.743T>A ENSP00000331550.6:p.Ile248Asn
ENST00000380993.7:c.743T>A ENSP00000370381.3:p.Ile248Asn
ENST00000396577.7:c.743T>A ENSP00000379822.3:p.Ile248Asn
ENST00000558252.5:n.4866T>A
ENST00000558405.5:c.743T>A ENSP00000453409.1:p.Ile248Asn
ENST00000559641.5:c.182T>A ENSP00000453230.1:p.Ile61Asn
ENST00000559723.2:n.116T>A
ENST00000560692.5:n.4882T>A
ENST00000561127.5:c.182T>A ENSP00000453602.2:p.Ile61Asn
NM_000338.2:c.743T>A NP_000329.2:p.Ile248Asn
NM_001184832.1:c.743T>A NP_001171761.1:p.Ile248Asn
XM_005254605.1:c.839T>A XP_005254662.1:p.Ile280Asn
XM_005254606.1:c.743T>A XP_005254663.1:p.Ile248Asn
XM_006720656.1:c.839T>A XP_006720719.1:p.Ile280Asn
XR_931896.1:n.1055T>A
XR_932203.1:n.229+749A>T
XR_932204.1:n.222+749A>T
XM_005254606.2:c.743T>A XP_005254663.1:p.Ile248Asn
XR_001751524.2:n.230+749A>T
XR_001751525.1:n.230+749A>T
XR_002957762.1:n.230+749A>T
XR_932204.3:n.224+749A>T
NM_000338.3:c.743T>A MANE Select NP_000329.2:p.Ile248Asn
NM_001184832.2:c.743T>A NP_001171761.1:p.Ile248Asn
NM_001384136.1:c.743T>A NP_001371065.1:p.Ile248Asn