Canonical Allele Identifier: CA392311931

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48246978G>T , CM000677.2:g.48246978G>T	GRCh38
NC_000015.9:g.48539175G>T , CM000677.1:g.48539175G>T	GRCh37
NC_000015.8:g.46326467G>T	NCBI36
NG_021301.1:g.45678G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000338.3:c.1522G>T MANE Select	NP_000329.2:p.Ala508Ser
ENST00000380993.8:c.1522G>T MANE Select	ENSP00000370381.3:p.Ala508Ser
NM_000338.2:c.1522G>T	NP_000329.2:p.Ala508Ser
NM_001184832.1:c.1522G>T	NP_001171761.1:p.Ala508Ser
NM_001184832.2:c.1522G>T	NP_001171761.1:p.Ala508Ser
NM_001384136.1:c.1522G>T	NP_001371065.1:p.Ala508Ser
ENST00000380993.7:c.1522G>T	ENSP00000370381.3:p.Ala508Ser
ENST00000396577.7:c.1522G>T	ENSP00000379822.3:p.Ala508Ser
ENST00000558252.5:n.5645G>T
ENST00000558405.5:c.1522G>T	ENSP00000453409.1:p.Ala508Ser
ENST00000559641.5:c.961G>T	ENSP00000453230.1:p.Ala321Ser
ENST00000560692.5:n.5661G>T
ENST00000646012.1:c.1660G>T	ENSP00000495813.1:p.Ala554Ser
ENST00000647232.1:c.1522G>T	ENSP00000493875.1:p.Ala508Ser
ENST00000647546.1:c.1522G>T	ENSP00000495332.1:p.Ala508Ser
ENST00000686073.1:c.1522G>T	ENSP00000508901.1:p.Ala508Ser
XM_005254605.1:c.1618G>T	XP_005254662.1:p.Ala540Ser
XM_005254606.1:c.1522G>T	XP_005254663.1:p.Ala508Ser
XM_005254606.2:c.1522G>T	XP_005254663.1:p.Ala508Ser
XM_006720656.1:c.1618G>T	XP_006720719.1:p.Ala540Ser
XR_001751535.1:n.88-4551C>A
XR_931896.1:n.1834G>T