Canonical Allele Identifier: CA457938045
Gene: ATP6V0A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.138424321C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138739576C>G , CM000669.2:g.138739576C>G GRCh38
NC_000007.13:g.138424321C>G , CM000669.1:g.138424321C>G GRCh37
NC_000007.12:g.138074861C>G NCBI36
NG_008145.1:g.63621G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000310018.7:c.1536G>C MANE Select ENSP00000308122.2:p.Val512=
ENST00000478480.2:c.762G>C ENSP00000495261.1:p.Val254=
ENST00000644341.1:c.762G>C ENSP00000495642.1:p.Val254=
ENST00000645515.1:c.1536G>C ENSP00000496421.1:p.Val512=
ENST00000647427.1:c.429G>C ENSP00000496259.1:p.Val143=
ENST00000310018.6:c.1536G>C ENSP00000308122.2:p.Val512=
ENST00000353492.4:c.1536G>C ENSP00000253856.6:p.Val512=
ENST00000393054.5:c.1536G>C ENSP00000376774.1:p.Val512=
ENST00000471085.1:n.252-5322G>C
NM_020632.2:c.1536G>C NP_065683.2:p.Val512=
NM_130840.2:c.1536G>C NP_570855.2:p.Val512=
NM_130841.2:c.1536G>C NP_570856.2:p.Val512=
XM_005250393.1:c.1536G>C XP_005250450.1:p.Val512=
XM_005250394.2:c.1536G>C XP_005250451.1:p.Val512=
XM_005250394.3:c.1536G>C XP_005250451.1:p.Val512=
NM_020632.3:c.1536G>C MANE Select NP_065683.2:p.Val512=
NM_130840.3:c.1536G>C NP_570855.2:p.Val512=
NM_130841.3:c.1536G>C NP_570856.2:p.Val512=