Canonical Allele Identifier: CA1746763718
Gene: ATP6V0A4 HGNC NCBI

Linked Data

dbSNP Id: rs772009991

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138706577C>A , CM000669.2:g.138706577C>A GRCh38
NC_000007.13:g.138391322C>A , CM000669.1:g.138391322C>A GRCh37
NC_000007.12:g.138041862C>A NCBI36
NG_008145.1:g.96620G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000310018.7:c.*47G>T MANE Select ENSP00000308122.2:n.*47G>T
ENST00000478480.2:c.*135G>T ENSP00000495261.1:n.*135G>T
ENST00000644341.1:c.*47G>T ENSP00000495642.1:n.*47G>T
ENST00000645515.1:c.*47G>T ENSP00000496421.1:n.*47G>T
ENST00000647427.1:c.1345G>T ENSP00000496259.1:n.1345G>T
ENST00000310018.6:c.*47G>T ENSP00000308122.2:n.*47G>T
ENST00000353492.4:c.*47G>T ENSP00000253856.6:n.*47G>T
ENST00000393054.5:c.*47G>T ENSP00000376774.1:n.*47G>T
NM_020632.2:c.*47G>T NP_065683.2:n.*47G>T
NM_130840.2:c.*47G>T NP_570855.2:n.*47G>T
NM_130841.2:c.*47G>T NP_570856.2:n.*47G>T
XM_005250393.1:c.*47G>T XP_005250450.1:n.*47G>T
XM_005250394.2:c.*47G>T XP_005250451.1:n.*47G>T
XM_005250394.3:c.*47G>T XP_005250451.1:n.*47G>T
NM_020632.3:c.*47G>T MANE Select NP_065683.2:n.*47G>T
NM_130840.3:c.*47G>T NP_570855.2:n.*47G>T
NM_130841.3:c.*47G>T NP_570856.2:n.*47G>T