LDH info

Canonical Allele Identifier: CA274152
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 102538
dbSNP Id: rs62516141

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843688T>C , CM000674.2:g.102843688T>C GRCh38
NC_000012.11:g.103237466T>C , CM000674.1:g.103237466T>C GRCh37
NC_000012.10:g.101761596T>C NCBI36
NG_008690.1:g.78915A>G
NG_008690.2:g.119723A>G

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.1157A>G VV NP_000268.1:p.Tyr386Cys
XM_011538422.1:c.1100A>G XP_011536724.1:p.Tyr367Cys
NM_000277.2:c.1157A>G VV NP_000268.1:p.Tyr386Cys
NM_001354304.1:c.1157A>G VV NP_001341233.1:p.Tyr386Cys
NM_000277.3:c.1157A>G VV MANE Preferred NP_000268.1:p.Tyr386Cys
ENST00000307000.7:c.1142A>G ENSP00000303500.2:p.Tyr381Cys
ENST00000549247.6:n.916A>G
ENST00000551114.2:n.819A>G
ENST00000553106.5:c.1157A>G ENSP00000448059.1:p.Tyr386Cys
ENST00000635477.1:n.261A>G
ENST00000635528.1:n.672A>G