LDH info

Canonical Allele Identifier: CA202973
Gene: AMPD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 197620
dbSNP Id: rs139582106

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114684278C>A , CM000663.2:g.114684278C>A GRCh38
NC_000001.10:g.115226899C>A , CM000663.1:g.115226899C>A GRCh37
NC_000001.9:g.115028422C>A NCBI36
NG_008012.1:g.16278G>T

Transcript Alleles

HGVS Amino-acid change
NM_000036.2:c.567G>T VV NP_000027.2:p.Gln189His
NM_001172626.1:c.555G>T VV NP_001166097.1:p.Gln185His
ENST00000369538.3:c.555G>T ENSP00000358551.3:p.Gln185His
ENST00000485564.3:n.342G>T
ENST00000520113.6:c.567G>T ENSP00000430075.2:p.Gln189His