Canonical Allele Identifier: CA2175391397

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48226534A= , CM000677.2:g.48226534A=	GRCh38
NC_000015.9:g.48518731A= , CM000677.1:g.48518731A=	GRCh37
NC_000015.8:g.46306023A=	NCBI36
NG_021301.1:g.25234A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.724+587A=	ENSP00000508901.1:n.724+587A=
ENST00000380993.8:c.687A= MANE Select	ENSP00000370381.3:p.Ser229=
ENST00000646012.1:c.825A=	ENSP00000495813.1:p.Ser275=
ENST00000647232.1:c.629-545A=	ENSP00000493875.1:n.629-545A=
ENST00000647546.1:c.687A=	ENSP00000495332.1:p.Ser229=
ENST00000330289.10:c.687A=	ENSP00000331550.6:p.Ser229=
ENST00000380993.7:c.687A=	ENSP00000370381.3:p.Ser229=
ENST00000396577.7:c.629-545A=	ENSP00000379822.3:n.629-545A=
ENST00000558252.5:n.4207A=
ENST00000558405.5:c.687A=	ENSP00000453409.1:p.Ser229=
ENST00000559641.5:c.126A=	ENSP00000453230.1:p.Ser42=
ENST00000559723.2:n.97+587A=
ENST00000560692.5:n.2209A=
ENST00000561127.5:c.126A=	ENSP00000453602.2:p.Ser42=
NM_000338.2:c.687A=	NP_000329.2:p.Ser229=
NM_001184832.1:c.629-545A=	NP_001171761.1:n.629-545A=
XM_005254605.1:c.687A=	XP_005254662.1:p.Ser229=
XM_005254606.1:c.724+587A=	XP_005254663.1:n.724+587A=
XM_006720656.1:c.687A=	XP_006720719.1:p.Ser229=
XR_931896.1:n.903A=
XM_005254606.2:c.724+587A=	XP_005254663.1:n.724+587A=
XR_001751524.2:n.363+927T=
XR_001751525.1:n.363+927T=
XR_002957762.1:n.363+927T=
XR_932204.3:n.357+927T=
NM_000338.3:c.687A= MANE Select	NP_000329.2:p.Ser229=
NM_001184832.2:c.629-545A=	NP_001171761.1:n.629-545A=
NM_001384136.1:c.724+587A=	NP_001371065.1:n.724+587A=