LDH info

Canonical Allele Identifier: CA145730
Gene: CDKN2A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 41580
dbSNP Id: rs3731249

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21970917C>T , CM000671.2:g.21970917C>T GRCh38
NC_000009.11:g.21970916C>T , CM000671.1:g.21970916C>T GRCh37
NC_000009.10:g.21960916C>T NCBI36
NG_007485.1:g.28575G>A , LRG_11:g.28575G>A

Transcript Alleles

HGVS Amino-acid change
NM_000077.4:c.442G>A , LRG_11t1:c.442G>A NP_000068.1:p.Ala148Thr
NM_001195132.1:c.442G>A VV NP_001182061.1:p.Ala148Thr
NM_058195.3:c.*86G>A , LRG_11t2:c.*86G>A NP_478102.2:p.=
NM_058197.4:n.716G>A VV NP_478104.2:p.=
XM_005251343.1:c.289G>A XP_005251400.1:p.Ala97Thr
XM_011517675.1:c.442G>A XP_011515977.1:p.Ala148Thr
XM_011517676.1:c.442G>A XP_011515978.1:p.Ala148Thr
XM_011517679.1:c.289G>A XP_011515981.1:p.Ala97Thr
XR_929159.1:n.843G>A
XR_929161.1:n.632G>A
XR_929162.1:n.632G>A
XR_929163.1:n.581G>A
XR_929164.1:n.364G>A
NM_001363763.1:c.289G>A VV NP_001350692.1:p.Ala97Thr
XM_011517675.2:c.442G>A XP_011515977.1:p.Ala148Thr
XM_011517676.2:c.442G>A XP_011515978.1:p.Ala148Thr
XR_929159.2:n.772G>A
NM_001363763.2:c.289G>A VV NP_001350692.1:p.Ala97Thr
ENST00000304494.9:c.442G>A ENSP00000307101.5:p.Ala148Thr
ENST00000361570.4:c.484G>A ENSP00000355153.4:p.Ala162Thr
ENST00000380150.2:n.416G>A
ENST00000380151.3:n.716G>A ENSP00000369496.3:p.=
ENST00000404796.2:c.348-58516C>T ENSP00000385916.2:p.=
ENST00000479692.2:c.289G>A ENSP00000466887.1:p.Ala97Thr
ENST00000494262.5:c.289G>A ENSP00000464952.1:p.Ala97Thr
ENST00000497750.1:c.289G>A ENSP00000468510.1:p.Ala97Thr
ENST00000498124.1:c.442G>A ENSP00000418915.1:p.Ala148Thr
ENST00000498628.6:c.289G>A ENSP00000467857.1:p.Ala97Thr
ENST00000530628.2:c.*27+59G>A ENSP00000432664.2:p.=
ENST00000578845.2:c.289G>A ENSP00000467390.1:p.Ala97Thr
ENST00000579122.1:c.383+59G>A ENSP00000464202.1:p.=
ENST00000579755.1:c.*86G>A ENSP00000462950.1:p.=