LDH info

Canonical Allele Identifier: CA117293
Gene: ATP6V0A4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5154
dbSNP Id: rs3807153

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138733046A>G , CM000669.2:g.138733046A>G GRCh38
NC_000007.13:g.138417791A>G , CM000669.1:g.138417791A>G GRCh37
NC_000007.12:g.138068331A>G NCBI36
NG_008145.1:g.70151T>C

Transcript Alleles

HGVS Amino-acid change
NM_020632.2:c.1739T>C VV NP_065683.2:p.Met580Thr
NM_130840.2:c.1739T>C VV NP_570855.2:p.Met580Thr
NM_130841.2:c.1739T>C VV NP_570856.2:p.Met580Thr
XM_005250393.1:c.1739T>C XP_005250450.1:p.Met580Thr
XM_005250394.2:c.1739T>C XP_005250451.1:p.Met580Thr
XM_005250394.3:c.1739T>C XP_005250451.1:p.Met580Thr
NM_020632.3:c.1739T>C VV MANE Preferred NP_065683.2:p.Met580Thr
NM_130840.3:c.1739T>C VV NP_570855.2:p.Met580Thr
ENST00000310018.6:c.1739T>C ENSP00000308122.2:p.Met580Thr
ENST00000353492.4:c.1739T>C ENSP00000253856.6:p.Met580Thr
ENST00000393054.5:c.1739T>C ENSP00000376774.1:p.Met580Thr