LDH info

Canonical Allele Identifier: CA229785
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 598
dbSNP Id: rs62514953

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852839G>A , CM000674.2:g.102852839G>A GRCh38
NC_000012.11:g.103246617G>A , CM000674.1:g.103246617G>A GRCh37
NC_000012.10:g.101770747G>A NCBI36
NG_008690.1:g.69764C>T
NG_008690.2:g.110572C>T

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.818C>T VV NP_000268.1:p.Ser273Phe
XM_011538422.1:c.818C>T XP_011536724.1:p.Ser273Phe
NM_000277.2:c.818C>T VV NP_000268.1:p.Ser273Phe
NM_001354304.1:c.818C>T VV NP_001341233.1:p.Ser273Phe
NM_000277.3:c.818C>T VV MANE Preferred NP_000268.1:p.Ser273Phe
ENST00000307000.7:c.803C>T ENSP00000303500.2:p.Ser268Phe
ENST00000549247.6:n.577C>T
ENST00000553106.5:c.818C>T ENSP00000448059.1:p.Ser273Phe