LDH info

Canonical Allele Identifier: CA145978
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 92732
dbSNP Id: rs59326968

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840437A>G , CM000674.2:g.102840437A>G GRCh38
NC_000012.11:g.103234215A>G , CM000674.1:g.103234215A>G GRCh37
NC_000012.10:g.101758345A>G NCBI36
NG_008690.1:g.82166T>C
NG_008690.2:g.122974T>C

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.1278T>C VV NP_000268.1:p.Asn426=
XM_011538422.1:c.1221T>C XP_011536724.1:p.Asn407=
NM_000277.2:c.1278T>C VV NP_000268.1:p.Asn426=
NM_001354304.1:c.1278T>C VV NP_001341233.1:p.Asn426=
NM_000277.3:c.1278T>C VV MANE Preferred NP_000268.1:p.Asn426=
ENST00000307000.7:c.1263T>C ENSP00000303500.2:p.Asn421=
ENST00000551114.2:n.940T>C
ENST00000553106.5:c.1278T>C ENSP00000448059.1:p.Asn426=
ENST00000635477.1:n.382T>C
ENST00000635528.1:n.793T>C