Canonical Allele Identifier: CA490016155

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229313A>G , CM000677.2:g.48229313A>G	GRCh38
NC_000015.9:g.48521510A>G , CM000677.1:g.48521510A>G	GRCh37
NC_000015.8:g.46308802A>G	NCBI36
NG_021301.1:g.28013A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000338.3:c.849A>G MANE Select	NP_000329.2:p.Val283=
ENST00000380993.8:c.849A>G MANE Select	ENSP00000370381.3:p.Val283=
NM_000338.2:c.849A>G	NP_000329.2:p.Val283=
NM_001184832.1:c.849A>G	NP_001171761.1:p.Val283=
NM_001184832.2:c.849A>G	NP_001171761.1:p.Val283=
NM_001384136.1:c.849A>G	NP_001371065.1:p.Val283=
ENST00000330289.10:c.849A>G	ENSP00000331550.6:p.Val283=
ENST00000380993.7:c.849A>G	ENSP00000370381.3:p.Val283=
ENST00000396577.7:c.849A>G	ENSP00000379822.3:p.Val283=
ENST00000558252.5:n.4972A>G
ENST00000558405.5:c.849A>G	ENSP00000453409.1:p.Val283=
ENST00000559641.5:c.288A>G	ENSP00000453230.1:p.Val96=
ENST00000559723.2:n.222A>G
ENST00000560692.5:n.4988A>G
ENST00000561127.5:c.288A>G	ENSP00000453602.2:p.Val96=
ENST00000646012.1:c.987A>G	ENSP00000495813.1:p.Val329=
ENST00000647232.1:c.849A>G	ENSP00000493875.1:p.Val283=
ENST00000647546.1:c.849A>G	ENSP00000495332.1:p.Val283=
ENST00000686073.1:c.849A>G	ENSP00000508901.1:p.Val283=
XM_005254605.1:c.945A>G	XP_005254662.1:p.Val315=
XM_005254606.1:c.849A>G	XP_005254663.1:p.Val283=
XM_005254606.2:c.849A>G	XP_005254663.1:p.Val283=
XM_006720656.1:c.945A>G	XP_006720719.1:p.Val315=
XR_001751524.2:n.230+643T>C
XR_001751525.1:n.230+643T>C
XR_002957762.1:n.230+643T>C
XR_931896.1:n.1161A>G
XR_932203.1:n.229+643T>C
XR_932204.1:n.222+643T>C
XR_932204.3:n.224+643T>C