Canonical Allele Identifier: CA387162988

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123751168T>A , CM000674.2:g.123751168T>A	GRCh38
NC_000012.11:g.124235715T>A , CM000674.1:g.124235715T>A	GRCh37
NC_000012.10:g.122801668T>A	NCBI36
NG_012743.1:g.43851T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012463.4:c.1994T>A MANE Select	NP_036595.2:p.Leu665Ter
ENST00000330342.8:c.1994T>A MANE Select	ENSP00000332247.2:p.Leu665Ter
NM_012463.3:c.1994T>A	NP_036595.2:p.Leu665Ter
ENST00000330342.7:c.1994T>A	ENSP00000332247.2:p.Leu665Ter
ENST00000534943.5:c.-167T>A	ENSP00000443726.1:n.-167T>A
ENST00000540368.6:n.2025T>A
ENST00000674794.1:c.2082T>A
ENST00000675260.1:n.1269T>A
ENST00000675344.1:c.*1015T>A	ENSP00000501953.1:n.*1015T>A
XM_005253563.1:c.1936-1115T>A	XP_005253620.1:n.1936-1115T>A
XM_006719317.2:c.1481T>A	XP_006719380.1:p.Leu494Ter
XM_006719318.2:c.1172T>A	XP_006719381.1:p.Leu391Ter
XM_024448910.1:c.1936-1115T>A	XP_024304678.1:n.1936-1115T>A
XM_024448911.1:c.1481T>A	XP_024304679.1:p.Leu494Ter
XM_024448912.1:c.1172T>A	XP_024304680.1:p.Leu391Ter
XR_429088.1:n.2157T>A