Canonical Allele Identifier: CA2068977346
Gene: ATP6V0A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123724728G= , CM000674.2:g.123724728G= GRCh38
NC_000012.11:g.124209275G= , CM000674.1:g.124209275G= GRCh37
NC_000012.10:g.122775228G= NCBI36
NG_012743.1:g.17411G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000330342.8:c.369G= MANE Select ENSP00000332247.2:p.Leu123=
ENST00000540368.6:n.400G=
ENST00000613625.5:c.369G= ENSP00000482236.1:p.Leu123=
ENST00000675344.1:c.369G= ENSP00000501953.1:p.Leu123=
ENST00000330342.7:c.369G= ENSP00000332247.2:p.Leu123=
ENST00000504192.2:c.-22G= ENSP00000443441.1:n.-22G=
ENST00000540368.5:n.579G=
ENST00000613625.4:c.369G= ENSP00000482236.1:p.Leu123=
NM_012463.3:c.369G= NP_036595.2:p.Leu123=
XM_005253563.1:c.369G= XP_005253620.1:p.Leu123=
XM_006719317.2:c.-56G= XP_006719380.1:n.-56G=
XR_429088.1:n.532G=
XM_024448910.1:c.369G= XP_024304678.1:p.Leu123=
XM_024448911.1:c.-56G= XP_024304679.1:n.-56G=
NM_012463.4:c.369G= MANE Select NP_036595.2:p.Leu123=