Canonical Allele Identifier: CA117291
Gene: ATP6V0A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 5152
ClinVar RCV Id: RCV000005459
dbSNP Id: rs587776615

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138734135C>T , CM000669.2:g.138734135C>T GRCh38
NC_000007.13:g.138418880C>T , CM000669.1:g.138418880C>T GRCh37
NC_000007.12:g.138069420C>T NCBI36
NG_008145.1:g.69062G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000310018.7:c.1691+1G>A MANE Select ENSP00000308122.2:p.=
ENST00000478480.2:c.917+1G>A ENSP00000495261.1:p.=
ENST00000644341.1:c.917+1G>A ENSP00000495642.1:p.=
ENST00000645515.1:c.1691+1G>A ENSP00000496421.1:p.=
ENST00000647427.1:n.584+1G>A ENSP00000496259.1:p.=
ENST00000310018.6:c.1691+1G>A ENSP00000308122.2:p.=
ENST00000353492.4:c.1691+1G>A ENSP00000253856.6:p.=
ENST00000393054.5:c.1691+1G>A ENSP00000376774.1:p.=
NM_020632.2:c.1691+1G>A NP_065683.2:p.=
NM_130840.2:c.1691+1G>A NP_570855.2:p.=
NM_130841.2:c.1691+1G>A NP_570856.2:p.=
XM_005250393.1:c.1691+1G>A XP_005250450.1:p.=
XM_005250394.2:c.1691+1G>A XP_005250451.1:p.=
XM_005250394.3:c.1691+1G>A XP_005250451.1:p.=
NM_020632.3:c.1691+1G>A MANE Select NP_065683.2:p.=
NM_130840.3:c.1691+1G>A NP_570855.2:p.=
NM_130841.3:c.1691+1G>A NP_570856.2:p.=