Canonical Allele Identifier: CA2069005371
Gene: ATP6V0A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123744660A= , CM000674.2:g.123744660A= GRCh38
NC_000012.11:g.124229207A= , CM000674.1:g.124229207A= GRCh37
NC_000012.10:g.122795160A= NCBI36
NG_012743.1:g.37343A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000330342.8:c.1390A= MANE Select ENSP00000332247.2:p.Thr464=
ENST00000540368.6:n.1421A=
ENST00000674794.1:c.1478A=
ENST00000675260.1:n.665A=
ENST00000675344.1:c.*411A= ENSP00000501953.1:n.*411A=
ENST00000330342.7:c.1390A= ENSP00000332247.2:p.Thr464=
ENST00000536426.1:n.407A=
ENST00000545059.5:n.4026A=
NM_012463.3:c.1390A= NP_036595.2:p.Thr464=
XM_005253563.1:c.1390A= XP_005253620.1:p.Thr464=
XM_006719317.2:c.877A= XP_006719380.1:p.Thr293=
XM_006719318.2:c.568A= XP_006719381.1:p.Thr190=
XR_429088.1:n.1553A=
XM_024448910.1:c.1390A= XP_024304678.1:p.Thr464=
XM_024448911.1:c.877A= XP_024304679.1:p.Thr293=
XM_024448912.1:c.568A= XP_024304680.1:p.Thr190=
NM_012463.4:c.1390A= MANE Select NP_036595.2:p.Thr464=