Canonical Allele Identifier: CA392306782

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229199C>A , CM000677.2:g.48229199C>A	GRCh38
NC_000015.9:g.48521396C>A , CM000677.1:g.48521396C>A	GRCh37
NC_000015.8:g.46308688C>A	NCBI36
NG_021301.1:g.27899C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.735C>A	ENSP00000508901.1:p.Tyr245Ter
ENST00000380993.8:c.735C>A MANE Select	ENSP00000370381.3:p.Tyr245Ter
ENST00000646012.1:c.873C>A	ENSP00000495813.1:p.Tyr291Ter
ENST00000647232.1:c.735C>A	ENSP00000493875.1:p.Tyr245Ter
ENST00000647546.1:c.735C>A	ENSP00000495332.1:p.Tyr245Ter
ENST00000330289.10:c.735C>A	ENSP00000331550.6:p.Tyr245Ter
ENST00000380993.7:c.735C>A	ENSP00000370381.3:p.Tyr245Ter
ENST00000396577.7:c.735C>A	ENSP00000379822.3:p.Tyr245Ter
ENST00000558252.5:n.4858C>A
ENST00000558405.5:c.735C>A	ENSP00000453409.1:p.Tyr245Ter
ENST00000559641.5:c.174C>A	ENSP00000453230.1:p.Tyr58Ter
ENST00000559723.2:n.108C>A
ENST00000560692.5:n.4874C>A
ENST00000561127.5:c.174C>A	ENSP00000453602.2:p.Tyr58Ter
NM_000338.2:c.735C>A	NP_000329.2:p.Tyr245Ter
NM_001184832.1:c.735C>A	NP_001171761.1:p.Tyr245Ter
XM_005254605.1:c.831C>A	XP_005254662.1:p.Tyr277Ter
XM_005254606.1:c.735C>A	XP_005254663.1:p.Tyr245Ter
XM_006720656.1:c.831C>A	XP_006720719.1:p.Tyr277Ter
XR_931896.1:n.1047C>A
XR_932203.1:n.229+757G>T
XR_932204.1:n.222+757G>T
XM_005254606.2:c.735C>A	XP_005254663.1:p.Tyr245Ter
XR_001751524.2:n.230+757G>T
XR_001751525.1:n.230+757G>T
XR_002957762.1:n.230+757G>T
XR_932204.3:n.224+757G>T
NM_000338.3:c.735C>A MANE Select	NP_000329.2:p.Tyr245Ter
NM_001184832.2:c.735C>A	NP_001171761.1:p.Tyr245Ter
NM_001384136.1:c.735C>A	NP_001371065.1:p.Tyr245Ter