Canonical Allele Identifier: CA2575342378

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743956A>G , CM000674.2:g.123743956A>G	GRCh38
NC_000012.11:g.124228503A>G , CM000674.1:g.124228503A>G	GRCh37
NC_000012.10:g.122794456A>G	NCBI36
NG_012743.1:g.36639A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1189+21A>G MANE Select	ENSP00000332247.2:n.1189+21A>G
ENST00000540368.6:n.1220+21A>G
ENST00000674794.1:c.1277+21A>G
ENST00000675260.1:n.464+21A>G
ENST00000675344.1:c.*210+21A>G	ENSP00000501953.1:n.*210+21A>G
ENST00000330342.7:c.1189+21A>G	ENSP00000332247.2:n.1189+21A>G
ENST00000504192.2:c.799+21A>G	ENSP00000443441.1:n.799+21A>G
ENST00000536426.1:n.206+21A>G
ENST00000545059.5:n.3825+21A>G
NM_012463.3:c.1189+21A>G	NP_036595.2:n.1189+21A>G
XM_005253563.1:c.1189+21A>G	XP_005253620.1:n.1189+21A>G
XM_006719317.2:c.676+21A>G	XP_006719380.1:n.676+21A>G
XM_006719318.2:c.367+21A>G	XP_006719381.1:n.367+21A>G
XR_429088.1:n.1352+21A>G
XM_024448910.1:c.1189+21A>G	XP_024304678.1:n.1189+21A>G
XM_024448911.1:c.676+21A>G	XP_024304679.1:n.676+21A>G
XM_024448912.1:c.367+21A>G	XP_024304680.1:n.367+21A>G
NM_012463.4:c.1189+21A>G MANE Select	NP_036595.2:n.1189+21A>G