LDH info

Canonical Allele Identifier: CA16041174
Gene: PEX1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371743
dbSNP Id: rs1057517500

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518257T>C , CM000669.2:g.92518257T>C GRCh38
NC_000007.13:g.92147571T>C , CM000669.1:g.92147571T>C GRCh37
NC_000007.12:g.91985507T>C NCBI36
NG_008341.1:g.15275A>G
NG_008341.2:g.15275A>G

Transcript Alleles

HGVS Amino-acid change
NM_000466.2:c.358-2A>G VV NP_000457.1:p.=
NM_001282677.1:c.358-2A>G VV NP_001269606.1:p.=
NM_001282678.1:c.-267-2A>G VV NP_001269607.1:p.=
XR_242246.3:n.454-2A>G
XR_242246.5:n.405-2A>G
NM_000466.3:c.358-2A>G VV MANE Preferred NP_000457.1:p.=
NM_001282677.2:c.358-2A>G VV NP_001269606.1:p.=
NM_001282678.2:c.-267-2A>G VV NP_001269607.1:p.=
ENST00000248633.8:c.358-2A>G ENSP00000248633.4:p.=
ENST00000428214.5:n.358-2A>G ENSP00000394413.1:p.=
ENST00000438045.5:c.273+3845A>G ENSP00000410438.1:p.=
ENST00000484913.5:n.397-2A>G