Canonical Allele Identifier: CA392306842

Gene: SLC12A1

Linked Data

• MyVariant Identifiers: chr15:g.48521414T>A (hg19) ; chr15:g.48229217T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229217T>A , CM000677.2:g.48229217T>A	GRCh38
NC_000015.9:g.48521414T>A , CM000677.1:g.48521414T>A	GRCh37
NC_000015.8:g.46308706T>A	NCBI36
NG_021301.1:g.27917T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.753T>A	ENSP00000508901.1:p.Ser251Arg
ENST00000380993.8:c.753T>A MANE Select	ENSP00000370381.3:p.Ser251Arg
ENST00000646012.1:c.891T>A	ENSP00000495813.1:p.Ser297Arg
ENST00000647232.1:c.753T>A	ENSP00000493875.1:p.Ser251Arg
ENST00000647546.1:c.753T>A	ENSP00000495332.1:p.Ser251Arg
ENST00000330289.10:c.753T>A	ENSP00000331550.6:p.Ser251Arg
ENST00000380993.7:c.753T>A	ENSP00000370381.3:p.Ser251Arg
ENST00000396577.7:c.753T>A	ENSP00000379822.3:p.Ser251Arg
ENST00000558252.5:n.4876T>A
ENST00000558405.5:c.753T>A	ENSP00000453409.1:p.Ser251Arg
ENST00000559641.5:c.192T>A	ENSP00000453230.1:p.Ser64Arg
ENST00000559723.2:n.126T>A
ENST00000560692.5:n.4892T>A
ENST00000561127.5:c.192T>A	ENSP00000453602.2:p.Ser64Arg
NM_000338.2:c.753T>A	NP_000329.2:p.Ser251Arg
NM_001184832.1:c.753T>A	NP_001171761.1:p.Ser251Arg
XM_005254605.1:c.849T>A	XP_005254662.1:p.Ser283Arg
XM_005254606.1:c.753T>A	XP_005254663.1:p.Ser251Arg
XM_006720656.1:c.849T>A	XP_006720719.1:p.Ser283Arg
XR_931896.1:n.1065T>A
XR_932203.1:n.229+739A>T
XR_932204.1:n.222+739A>T
XM_005254606.2:c.753T>A	XP_005254663.1:p.Ser251Arg
XR_001751524.2:n.230+739A>T
XR_001751525.1:n.230+739A>T
XR_002957762.1:n.230+739A>T
XR_932204.3:n.224+739A>T
NM_000338.3:c.753T>A MANE Select	NP_000329.2:p.Ser251Arg
NM_001184832.2:c.753T>A	NP_001171761.1:p.Ser251Arg
NM_001384136.1:c.753T>A	NP_001371065.1:p.Ser251Arg