Canonical Allele Identifier: CA490015940

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229223G>A , CM000677.2:g.48229223G>A	GRCh38
NC_000015.9:g.48521420G>A , CM000677.1:g.48521420G>A	GRCh37
NC_000015.8:g.46308712G>A	NCBI36
NG_021301.1:g.27923G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000338.3:c.759G>A MANE Select	NP_000329.2:p.Gly253=
ENST00000380993.8:c.759G>A MANE Select	ENSP00000370381.3:p.Gly253=
NM_000338.2:c.759G>A	NP_000329.2:p.Gly253=
NM_001184832.1:c.759G>A	NP_001171761.1:p.Gly253=
NM_001184832.2:c.759G>A	NP_001171761.1:p.Gly253=
NM_001384136.1:c.759G>A	NP_001371065.1:p.Gly253=
ENST00000330289.10:c.759G>A	ENSP00000331550.6:p.Gly253=
ENST00000380993.7:c.759G>A	ENSP00000370381.3:p.Gly253=
ENST00000396577.7:c.759G>A	ENSP00000379822.3:p.Gly253=
ENST00000558252.5:n.4882G>A
ENST00000558405.5:c.759G>A	ENSP00000453409.1:p.Gly253=
ENST00000559641.5:c.198G>A	ENSP00000453230.1:p.Gly66=
ENST00000559723.2:n.132G>A
ENST00000560692.5:n.4898G>A
ENST00000561127.5:c.198G>A	ENSP00000453602.2:p.Gly66=
ENST00000646012.1:c.897G>A	ENSP00000495813.1:p.Gly299=
ENST00000647232.1:c.759G>A	ENSP00000493875.1:p.Gly253=
ENST00000647546.1:c.759G>A	ENSP00000495332.1:p.Gly253=
ENST00000686073.1:c.759G>A	ENSP00000508901.1:p.Gly253=
XM_005254605.1:c.855G>A	XP_005254662.1:p.Gly285=
XM_005254606.1:c.759G>A	XP_005254663.1:p.Gly253=
XM_005254606.2:c.759G>A	XP_005254663.1:p.Gly253=
XM_006720656.1:c.855G>A	XP_006720719.1:p.Gly285=
XR_001751524.2:n.230+733C>T
XR_001751525.1:n.230+733C>T
XR_002957762.1:n.230+733C>T
XR_931896.1:n.1071G>A
XR_932203.1:n.229+733C>T
XR_932204.1:n.222+733C>T
XR_932204.3:n.224+733C>T