Canonical Allele Identifier: CA117295
Gene: ATP6V0A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 5157
ClinVar RCV Id: RCV000005464
dbSNP Id: rs121908368

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138739541G>A , CM000669.2:g.138739541G>A GRCh38
NC_000007.13:g.138424286G>A , CM000669.1:g.138424286G>A GRCh37
NC_000007.12:g.138074826G>A NCBI36
NG_008145.1:g.63656C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000310018.7:c.1571C>T MANE Select ENSP00000308122.2:p.Pro524Leu
ENST00000478480.2:c.797C>T ENSP00000495261.1:p.Pro266Leu
ENST00000644341.1:c.797C>T ENSP00000495642.1:p.Pro266Leu
ENST00000645515.1:c.1571C>T ENSP00000496421.1:p.Pro524Leu
ENST00000647427.1:n.464C>T ENSP00000496259.1:p.Pro155Leu
ENST00000310018.6:c.1571C>T ENSP00000308122.2:p.Pro524Leu
ENST00000353492.4:c.1571C>T ENSP00000253856.6:p.Pro524Leu
ENST00000393054.5:c.1571C>T ENSP00000376774.1:p.Pro524Leu
ENST00000471085.1:n.252-5287C>T
NM_020632.2:c.1571C>T NP_065683.2:p.Pro524Leu
NM_130840.2:c.1571C>T NP_570855.2:p.Pro524Leu
NM_130841.2:c.1571C>T NP_570856.2:p.Pro524Leu
XM_005250393.1:c.1571C>T XP_005250450.1:p.Pro524Leu
XM_005250394.2:c.1571C>T XP_005250451.1:p.Pro524Leu
XM_005250394.3:c.1571C>T XP_005250451.1:p.Pro524Leu
NM_020632.3:c.1571C>T MANE Select NP_065683.2:p.Pro524Leu
NM_130840.3:c.1571C>T NP_570855.2:p.Pro524Leu
NM_130841.3:c.1571C>T NP_570856.2:p.Pro524Leu