LDH info

Canonical Allele Identifier: CA617822476
Gene: SLC12A1 HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48229308_48229309insACATTTA , CM000677.2:g.48229308_48229309insACATTTA GRCh38
NC_000015.9:g.48521505_48521506insACATTTA , CM000677.1:g.48521505_48521506insACATTTA GRCh37
NC_000015.8:g.46308797_46308798insACATTTA NCBI36
NG_021301.1:g.28008_28009insACATTTA

Transcript Alleles

HGVS Amino-acid change
NM_000338.2:c.844_845insACATTTA VV NP_000329.2:p.Thr282AsnfsTer9
NM_001184832.1:c.844_845insACATTTA VV NP_001171761.1:p.Thr282AsnfsTer9
XM_005254605.1:c.940_941insACATTTA XP_005254662.1:p.Thr314AsnfsTer9
XM_005254606.1:c.844_845insACATTTA XP_005254663.1:p.Thr282AsnfsTer9
XM_006720656.1:c.940_941insACATTTA XP_006720719.1:p.Thr314AsnfsTer9
XR_931896.1:n.1156_1157insACATTTA
XR_932203.1:n.229+648_229+649insAAATGTT
XR_932204.1:n.222+648_222+649insAAATGTT
XM_005254606.2:c.844_845insACATTTA XP_005254663.1:p.Thr282AsnfsTer9
XR_001751524.2:n.230+648_230+649insAAATGTT
XR_001751525.1:n.230+648_230+649insAAATGTT
XR_002957762.1:n.230+648_230+649insAAATGTT
XR_932204.3:n.224+648_224+649insAAATGTT
NM_000338.3:c.844_845insACATTTA VV MANE Preferred NP_000329.2:p.Thr282AsnfsTer9
NM_001184832.2:c.844_845insACATTTA VV NP_001171761.1:p.Thr282AsnfsTer9
ENST00000330289.10:c.844_845insACATTTA ENSP00000331550.6:p.Thr282AsnfsTer9
ENST00000380993.7:c.844_845insACATTTA ENSP00000370381.3:p.Thr282AsnfsTer9
ENST00000396577.7:c.844_845insACATTTA ENSP00000379822.3:p.Thr282AsnfsTer9
ENST00000558252.5:n.4967_4968insACATTTA
ENST00000558405.5:c.844_845insACATTTA ENSP00000453409.1:p.Thr282AsnfsTer9
ENST00000559641.5:c.283_284insACATTTA ENSP00000453230.1:p.Thr95AsnfsTer9
ENST00000559723.2:n.217_218insACATTTA
ENST00000560692.5:n.4983_4984insACATTTA
ENST00000561127.5:c.283_284insACATTTA ENSP00000453602.2:p.Thr95AsnfsTer9