Canonical Allele Identifier: CA2068978834
Gene: ATP6V0A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123726283G= , CM000674.2:g.123726283G= GRCh38
NC_000012.11:g.124210830G= , CM000674.1:g.124210830G= GRCh37
NC_000012.10:g.122776783G= NCBI36
NG_012743.1:g.18966G=

Transcript Alleles

HGVS Amino-acid change
ENST00000330342.8:c.519G= MANE Select ENSP00000332247.2:p.Leu173=
ENST00000540368.6:n.550G=
ENST00000613625.5:c.519G= ENSP00000482236.1:p.Leu173=
ENST00000675344.1:c.519G= ENSP00000501953.1:p.Leu173=
ENST00000330342.7:c.519G= ENSP00000332247.2:p.Leu173=
ENST00000504192.2:c.129G= ENSP00000443441.1:p.Leu43=
ENST00000540368.5:n.729G=
ENST00000613625.4:c.519G= ENSP00000482236.1:p.Leu173=
NM_012463.3:c.519G= NP_036595.2:p.Leu173=
XM_005253563.1:c.519G= XP_005253620.1:p.Leu173=
XM_006719317.2:c.8+1492G= XP_006719380.1:n.8+1492G=
XR_429088.1:n.682G=
XM_024448910.1:c.519G= XP_024304678.1:p.Leu173=
XM_024448911.1:c.8+1492G= XP_024304679.1:n.8+1492G=
NM_012463.4:c.519G= MANE Select NP_036595.2:p.Leu173=