LDH info

Canonical Allele Identifier: CA120412
Gene: CDKN2A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9425
dbSNP Id: rs104894109

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971192C>A , CM000671.2:g.21971192C>A GRCh38
NC_000009.11:g.21971191C>A , CM000671.1:g.21971191C>A GRCh37
NC_000009.10:g.21961191C>A NCBI36
NG_007485.1:g.28300G>T , LRG_11:g.28300G>T

Transcript Alleles

HGVS Amino-acid change
NM_000077.4:c.167G>T , LRG_11t1:c.167G>T NP_000068.1:p.Ser56Ile
NM_001195132.1:c.167G>T VV NP_001182061.1:p.Ser56Ile
NM_058195.3:c.210G>T , LRG_11t2:c.210G>T NP_478102.2:p.Gln70His
NM_058197.4:n.441G>T VV NP_478104.2:p.=
XM_005251343.1:c.14G>T XP_005251400.1:p.Ser5Ile
XM_011517675.1:c.167G>T XP_011515977.1:p.Ser56Ile
XM_011517676.1:c.167G>T XP_011515978.1:p.Ser56Ile
XM_011517679.1:c.14G>T XP_011515981.1:p.Ser5Ile
XR_929159.1:n.568G>T
XR_929161.1:n.357G>T
XR_929162.1:n.357G>T
XR_929163.1:n.306G>T
XR_929164.1:n.89G>T
NM_001363763.1:c.14G>T VV NP_001350692.1:p.Ser5Ile
XM_011517675.2:c.167G>T XP_011515977.1:p.Ser56Ile
XM_011517676.2:c.167G>T XP_011515978.1:p.Ser56Ile
XR_929159.2:n.497G>T
ENST00000304494.9:c.167G>T ENSP00000307101.5:p.Ser56Ile
ENST00000361570.4:c.210G>T ENSP00000355153.4:p.Gln70His
ENST00000380150.2:n.141G>T
ENST00000380151.3:n.441G>T ENSP00000369496.3:p.=
ENST00000404796.2:c.348-58241C>A ENSP00000385916.2:p.=
ENST00000479692.2:c.14G>T ENSP00000466887.1:p.Ser5Ile
ENST00000494262.5:c.14G>T ENSP00000464952.1:p.Ser5Ile
ENST00000497750.1:c.14G>T ENSP00000468510.1:p.Ser5Ile
ENST00000498124.1:c.167G>T ENSP00000418915.1:p.Ser56Ile
ENST00000498628.6:c.14G>T ENSP00000467857.1:p.Ser5Ile
ENST00000530628.2:c.210G>T ENSP00000432664.2:p.Gln70His
ENST00000578845.2:c.14G>T ENSP00000467390.1:p.Ser5Ile
ENST00000579122.1:c.167G>T ENSP00000464202.1:p.Ser56Ile
ENST00000579755.1:c.210G>T ENSP00000462950.1:p.Gln70His