Canonical Allele Identifier: CA245200487

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744334A>G , CM000674.2:g.123744334A>G	GRCh38
NC_000012.11:g.124228881A>G , CM000674.1:g.124228881A>G	GRCh37
NC_000012.10:g.122794834A>G	NCBI36
NG_012743.1:g.37017A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_012463.4:c.1323A>G MANE Select	NP_036595.2:p.Gln441=
ENST00000330342.8:c.1323A>G MANE Select	ENSP00000332247.2:p.Gln441=
NM_012463.3:c.1323A>G	NP_036595.2:p.Gln441=
ENST00000330342.7:c.1323A>G	ENSP00000332247.2:p.Gln441=
ENST00000504192.2:c.933A>G	ENSP00000443441.1:p.Gln311=
ENST00000536426.1:n.340A>G
ENST00000540368.6:n.1354A>G
ENST00000545059.5:n.3959A>G
ENST00000674794.1:c.1411A>G
ENST00000675260.1:n.598A>G
ENST00000675344.1:c.*344A>G	ENSP00000501953.1:n.*344A>G
XM_005253563.1:c.1323A>G	XP_005253620.1:p.Gln441=
XM_006719317.2:c.810A>G	XP_006719380.1:p.Gln270=
XM_006719318.2:c.501A>G	XP_006719381.1:p.Gln167=
XM_024448910.1:c.1323A>G	XP_024304678.1:p.Gln441=
XM_024448911.1:c.810A>G	XP_024304679.1:p.Gln270=
XM_024448912.1:c.501A>G	XP_024304680.1:p.Gln167=
XR_429088.1:n.1486A>G