Canonical Allele Identifier: CA387155514

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123743842-C-A
• MyVariant Identifiers: chr12:g.124228389C>A (hg19) ; chr12:g.123743842C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743842C>A , CM000674.2:g.123743842C>A	GRCh38
NC_000012.11:g.124228389C>A , CM000674.1:g.124228389C>A	GRCh37
NC_000012.10:g.122794342C>A	NCBI36
NG_012743.1:g.36525C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1096C>A MANE Select	ENSP00000332247.2:p.Pro366Thr
ENST00000540368.6:n.1127C>A
ENST00000674794.1:c.1184C>A
ENST00000675260.1:n.371C>A
ENST00000675344.1:c.*117C>A	ENSP00000501953.1:n.*117C>A
ENST00000330342.7:c.1096C>A	ENSP00000332247.2:p.Pro366Thr
ENST00000504192.2:c.706C>A	ENSP00000443441.1:p.Pro236Thr
ENST00000536426.1:n.113C>A
ENST00000545059.5:n.3732C>A
NM_012463.3:c.1096C>A	NP_036595.2:p.Pro366Thr
XM_005253563.1:c.1096C>A	XP_005253620.1:p.Pro366Thr
XM_006719317.2:c.583C>A	XP_006719380.1:p.Pro195Thr
XM_006719318.2:c.274C>A	XP_006719381.1:p.Pro92Thr
XR_429088.1:n.1259C>A
XM_024448910.1:c.1096C>A	XP_024304678.1:p.Pro366Thr
XM_024448911.1:c.583C>A	XP_024304679.1:p.Pro195Thr
XM_024448912.1:c.274C>A	XP_024304680.1:p.Pro92Thr
NM_012463.4:c.1096C>A MANE Select	NP_036595.2:p.Pro366Thr