LDH info

Canonical Allele Identifier: CA220228
Gene: ACAT1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2840
dbSNP Id: rs120074144

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108141688C>T , CM000673.2:g.108141688C>T GRCh38
NC_000011.9:g.108012415C>T , CM000673.1:g.108012415C>T GRCh37
NC_000011.8:g.107517625C>T NCBI36
NG_009888.1:g.25158C>T
NG_009888.2:g.29984C>T

Transcript Alleles

HGVS Amino-acid change
NM_000019.3:c.814C>T VV NP_000010.1:p.Gln272Ter
XM_006718834.2:c.544C>T XP_006718897.1:p.Gln182Ter
XM_006718835.2:c.544C>T XP_006718898.1:p.Gln182Ter
XM_006718835.3:c.544C>T XP_006718898.1:p.Gln182Ter
XM_017017681.1:c.544C>T XP_016873170.1:p.Gln182Ter
XM_017017682.2:c.436C>T XP_016873171.1:p.Gln146Ter
XM_017017683.2:c.436C>T XP_016873172.1:p.Gln146Ter
XM_024448511.1:c.544C>T XP_024304279.1:p.Gln182Ter
XM_024448512.1:c.544C>T XP_024304280.1:p.Gln182Ter
XM_024448513.1:c.544C>T XP_024304281.1:p.Gln182Ter
XM_024448514.1:c.544C>T XP_024304282.1:p.Gln182Ter
XM_024448515.1:c.544C>T XP_024304283.1:p.Gln182Ter
NM_000019.4:c.814C>T VV MANE Preferred NP_000010.1:p.Gln272Ter
ENST00000265838.8:c.814C>T ENSP00000265838.4:p.Gln272Ter
ENST00000531813.5:c.*287C>T ENSP00000435965.1:p.=
ENST00000532792.5:n.309C>T
ENST00000533610.1:n.275C>T