LDH info

Canonical Allele Identifier: CA117294
Gene: ATP6V0A4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5155
ClinVar RCV Id: RCV000005462
dbSNP Id: rs587776617

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138762435C>T , CM000669.2:g.138762435C>T GRCh38
NC_000007.13:g.138447180C>T , CM000669.1:g.138447180C>T GRCh37
NC_000007.12:g.138097720C>T NCBI36
NG_008145.1:g.40762G>A

Transcript Alleles

HGVS Amino-acid change
NM_020632.2:c.418-1G>A VV NP_065683.2:p.=
NM_130840.2:c.418-1G>A VV NP_570855.2:p.=
NM_130841.2:c.418-1G>A VV NP_570856.2:p.=
XM_005250393.1:c.418-1G>A XP_005250450.1:p.=
XM_005250394.2:c.418-1G>A XP_005250451.1:p.=
XM_005250394.3:c.418-1G>A XP_005250451.1:p.=
NM_020632.3:c.418-1G>A VV MANE Preferred NP_065683.2:p.=
ENST00000310018.6:c.418-1G>A ENSP00000308122.2:p.=
ENST00000353492.4:c.418-1G>A ENSP00000253856.6:p.=
ENST00000393054.5:c.418-1G>A ENSP00000376774.1:p.=
ENST00000483139.1:n.667-1G>A