LDH info

Canonical Allele Identifier: CA229885
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 102921
dbSNP Id: rs62508573

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844426G>C , CM000674.2:g.102844426G>C GRCh38
NC_000012.11:g.103238204G>C , CM000674.1:g.103238204G>C GRCh37
NC_000012.10:g.101762334G>C NCBI36
NG_008690.1:g.78177C>G
NG_008690.2:g.118985C>G

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.975C>G VV NP_000268.1:p.Tyr325Ter
XM_011538422.1:c.918C>G XP_011536724.1:p.Tyr306Ter
NM_000277.2:c.975C>G VV NP_000268.1:p.Tyr325Ter
NM_001354304.1:c.975C>G VV NP_001341233.1:p.Tyr325Ter
NM_000277.3:c.975C>G VV MANE Preferred NP_000268.1:p.Tyr325Ter
ENST00000307000.7:c.960C>G ENSP00000303500.2:p.Tyr320Ter
ENST00000549247.6:n.734C>G
ENST00000551114.2:n.637C>G
ENST00000553106.5:c.975C>G ENSP00000448059.1:p.Tyr325Ter
ENST00000635477.1:n.79C>G
ENST00000635528.1:n.490C>G