Canonical Allele Identifier: CA482268300
Gene: ATP6V0A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123718692C>A , CM000674.2:g.123718692C>A GRCh38
NC_000012.11:g.124203239C>A , CM000674.1:g.124203239C>A GRCh37
NC_000012.10:g.122769192C>A NCBI36
NG_012743.1:g.11375C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330342.8:c.187C>A MANE Select ENSP00000332247.2:p.Arg63=
ENST00000540368.6:n.218C>A
ENST00000613625.5:c.187C>A ENSP00000482236.1:p.Arg63=
ENST00000675344.1:c.187C>A ENSP00000501953.1:p.Arg63=
ENST00000676034.1:n.170C>A
ENST00000330342.7:c.187C>A ENSP00000332247.2:p.Arg63=
ENST00000540368.5:n.397C>A
ENST00000613625.4:c.187C>A ENSP00000482236.1:p.Arg63=
NM_012463.3:c.187C>A NP_036595.2:p.Arg63=
XM_005253563.1:c.187C>A XP_005253620.1:p.Arg63=
XR_429088.1:n.350C>A
XR_945477.1:n.1100-3129G>T
XR_945478.1:n.1100-3129G>T
XR_945479.1:n.1100-3129G>T
XM_024448910.1:c.187C>A XP_024304678.1:p.Arg63=
XR_945477.3:n.492-3129G>T
XR_945478.3:n.492-3129G>T
NM_012463.4:c.187C>A MANE Select NP_036595.2:p.Arg63=