LDH info

Canonical Allele Identifier: CA204886
Gene: GNAO1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 208777
dbSNP Id: rs797044951

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56351396G>A , CM000678.2:g.56351396G>A GRCh38
NC_000016.9:g.56385308G>A , CM000678.1:g.56385308G>A GRCh37
NC_000016.8:g.54942809G>A NCBI36
NG_042800.1:g.165058G>A

Transcript Alleles

HGVS Amino-acid change
NM_020988.2:c.736G>A VV NP_066268.1:p.Glu246Lys
XM_011523003.1:c.610G>A XP_011521305.1:p.Glu204Lys
XM_011523003.3:c.610G>A XP_011521305.1:p.Glu204Lys
NM_020988.3:c.736G>A VV MANE Preferred NP_066268.1:p.Glu246Lys
ENST00000262493.10:c.736G>A ENSP00000262493.6:p.Glu246Lys
ENST00000568375.1:n.116-3470G>A