LDH info

Canonical Allele Identifier: CA214447
Gene: GNAO1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 66113
ClinVar RCV Id: RCV000056406
dbSNP Id: rs587777055

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56334785A>G , CM000678.2:g.56334785A>G GRCh38
NC_000016.9:g.56368697A>G , CM000678.1:g.56368697A>G GRCh37
NC_000016.8:g.54926198A>G NCBI36
NG_042800.1:g.148447A>G

Transcript Alleles

HGVS Amino-acid change
NM_020988.2:c.521A>G VV NP_066268.1:p.Asp174Gly
NM_138736.2:c.521A>G VV NP_620073.2:p.Asp174Gly
XM_011523003.1:c.395A>G XP_011521305.1:p.Asp132Gly
XM_011523003.3:c.395A>G XP_011521305.1:p.Asp132Gly
NM_020988.3:c.521A>G VV MANE Preferred NP_066268.1:p.Asp174Gly
NM_138736.3:c.521A>G VV NP_620073.2:p.Asp174Gly
ENST00000262493.10:c.521A>G ENSP00000262493.6:p.Asp174Gly
ENST00000262494.11:c.521A>G ENSP00000262494.7:p.Asp174Gly
ENST00000562316.5:c.260A>G ENSP00000457238.1:p.Asp87Gly