LDH info

Canonical Allele Identifier: CA200893
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 102577
dbSNP Id: rs1801152

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840473G>A , CM000674.2:g.102840473G>A GRCh38
NC_000012.11:g.103234251G>A , CM000674.1:g.103234251G>A GRCh37
NC_000012.10:g.101758381G>A NCBI36
NG_008690.1:g.82130C>T
NG_008690.2:g.122938C>T

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.1242C>T VV NP_000268.1:p.Tyr414=
XM_011538422.1:c.1185C>T XP_011536724.1:p.Tyr395=
NM_000277.2:c.1242C>T VV NP_000268.1:p.Tyr414=
NM_001354304.1:c.1242C>T VV NP_001341233.1:p.Tyr414=
NM_000277.3:c.1242C>T VV MANE Preferred NP_000268.1:p.Tyr414=
ENST00000307000.7:c.1227C>T ENSP00000303500.2:p.Tyr409=
ENST00000551114.2:n.904C>T
ENST00000553106.5:c.1242C>T ENSP00000448059.1:p.Tyr414=
ENST00000635477.1:n.346C>T
ENST00000635528.1:n.757C>T