Canonical Allele Identifier: CA2175391462

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48226563T= , CM000677.2:g.48226563T=	GRCh38
NC_000015.9:g.48518760T= , CM000677.1:g.48518760T=	GRCh37
NC_000015.8:g.46306052T=	NCBI36
NG_021301.1:g.25263T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.724+616T=	ENSP00000508901.1:n.724+616T=
ENST00000380993.8:c.716T= MANE Select	ENSP00000370381.3:p.Val239=
ENST00000646012.1:c.854T=	ENSP00000495813.1:p.Val285=
ENST00000647232.1:c.629-516T=	ENSP00000493875.1:n.629-516T=
ENST00000647546.1:c.716T=	ENSP00000495332.1:p.Val239=
ENST00000330289.10:c.716T=	ENSP00000331550.6:p.Val239=
ENST00000380993.7:c.716T=	ENSP00000370381.3:p.Val239=
ENST00000396577.7:c.629-516T=	ENSP00000379822.3:n.629-516T=
ENST00000558252.5:n.4236T=
ENST00000558405.5:c.716T=	ENSP00000453409.1:p.Val239=
ENST00000559641.5:c.155T=	ENSP00000453230.1:p.Val52=
ENST00000559723.2:n.97+616T=
ENST00000560692.5:n.2238T=
ENST00000561127.5:c.155T=	ENSP00000453602.2:p.Val52=
NM_000338.2:c.716T=	NP_000329.2:p.Val239=
NM_001184832.1:c.629-516T=	NP_001171761.1:n.629-516T=
XM_005254605.1:c.716T=	XP_005254662.1:p.Val239=
XM_005254606.1:c.724+616T=	XP_005254663.1:n.724+616T=
XM_006720656.1:c.716T=	XP_006720719.1:p.Val239=
XR_931896.1:n.932T=
XM_005254606.2:c.724+616T=	XP_005254663.1:n.724+616T=
XR_001751524.2:n.363+898A=
XR_001751525.1:n.363+898A=
XR_002957762.1:n.363+898A=
XR_932204.3:n.357+898A=
NM_000338.3:c.716T= MANE Select	NP_000329.2:p.Val239=
NM_001184832.2:c.629-516T=	NP_001171761.1:n.629-516T=
NM_001384136.1:c.724+616T=	NP_001371065.1:n.724+616T=