Canonical Allele Identifier: CA2685126521
Gene: ATP6V0A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138706398G>T , CM000669.2:g.138706398G>T GRCh38
NC_000007.13:g.138391143G>T , CM000669.1:g.138391143G>T GRCh37
NC_000007.12:g.138041683G>T NCBI36
NG_008145.1:g.96799C>A
NG_051552.1:g.150C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310018.7:c.*226C>A MANE Select ENSP00000308122.2:n.*226C>A
ENST00000478480.2:c.*314C>A ENSP00000495261.1:n.*314C>A
ENST00000644341.1:c.*226C>A ENSP00000495642.1:n.*226C>A
ENST00000645515.1:c.*226C>A ENSP00000496421.1:n.*226C>A
ENST00000647427.1:c.1524C>A ENSP00000496259.1:n.1524C>A
ENST00000310018.6:c.*226C>A ENSP00000308122.2:n.*226C>A
ENST00000393054.5:c.*226C>A ENSP00000376774.1:n.*226C>A
NM_020632.2:c.*226C>A NP_065683.2:n.*226C>A
NM_130840.2:c.*226C>A NP_570855.2:n.*226C>A
NM_130841.2:c.*226C>A NP_570856.2:n.*226C>A
XM_005250393.1:c.*226C>A XP_005250450.1:n.*226C>A
XM_005250394.2:c.*226C>A XP_005250451.1:n.*226C>A
XM_005250394.3:c.*226C>A XP_005250451.1:n.*226C>A
NM_020632.3:c.*226C>A MANE Select NP_065683.2:n.*226C>A
NM_130840.3:c.*226C>A NP_570855.2:n.*226C>A
NM_130841.3:c.*226C>A NP_570856.2:n.*226C>A