LDH info

Canonical Allele Identifier: CA11925775
Gene: ADAMTS12 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1364044

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33879687C>T , CM000667.2:g.33879687C>T GRCh38
NC_000005.9:g.33879792C>T , CM000667.1:g.33879792C>T GRCh37
NC_000005.8:g.33915549C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_030955.2:c.489+1432G>A VV NP_112217.2:p.=
XM_011514146.1:c.489+1432G>A XP_011512448.1:p.=
XM_011514148.1:c.489+1432G>A XP_011512450.1:p.=
XM_011514149.1:c.489+1432G>A XP_011512451.1:p.=
NM_001324511.1:c.489+1432G>A VV NP_001311440.1:p.=
NM_001324512.1:c.489+1432G>A VV NP_001311441.1:p.=
NM_030955.3:c.489+1432G>A VV NP_112217.2:p.=
XM_017009905.1:c.489+1432G>A XP_016865394.1:p.=
NM_030955.4:c.489+1432G>A VV MANE Preferred NP_112217.2:p.=
NM_001324511.2:c.489+1432G>A VV NP_001311440.1:p.=
NM_001324512.2:c.489+1432G>A VV NP_001311441.1:p.=
ENST00000352040.7:c.489+1432G>A ENSP00000344847.3:p.=
ENST00000504830.5:c.489+1432G>A ENSP00000422554.1:p.=
ENST00000515401.1:c.489+1432G>A ENSP00000421638.1:p.=