LDH info

Canonical Allele Identifier: CA273894

Identifiers and link-outs to other resources

ClinVar Variation Id: 188729
dbSNP Id: rs267608179

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494486C>T , CM000669.2:g.92494486C>T GRCh38
NC_000007.13:g.92123800C>T , CM000669.1:g.92123800C>T GRCh37
NC_000007.12:g.91961736C>T NCBI36
NG_008341.1:g.39046G>A
NG_008341.2:g.39046G>A

Transcript Alleles

HGVS Amino-acid change
NM_000466.2:c.2926+1G>A (PEX1) VV NP_000457.1:p.=
NM_001282677.1:c.2755+1G>A (PEX1) VV NP_001269606.1:p.=
NM_001282678.1:c.2302+1G>A (PEX1) VV NP_001269607.1:p.=
XM_005250433.3:c.1177+1G>A (PEX1) XP_005250490.1:p.=
XR_242246.3:n.3022+1G>A (PEX1)
XM_017012319.2:c.1177+1G>A (PEX1) XP_016867808.1:p.=
XR_001744808.2:n.1953+1G>A (PEX1)
XR_001744843.2:n.5455C>T (GATAD1)
XR_242246.5:n.2973+1G>A (PEX1)
XR_927494.3:n.4306C>T (GATAD1)
XR_927503.3:n.4237C>T (GATAD1)
NM_000466.3:c.2926+1G>A (PEX1) VV NP_000457.1:p.=
ENST00000248633.8:c.2926+1G>A ENSP00000248633.4:p.=
ENST00000428214.5:n.2755+1G>A ENSP00000394413.1:p.=
ENST00000438045.5:c.1960+1G>A ENSP00000410438.1:p.=
ENST00000484913.5:n.2965+1G>A
ENST00000496420.5:n.2818+1G>A