Canonical Allele Identifier: CA387163033

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123751189T>A , CM000674.2:g.123751189T>A	GRCh38
NC_000012.11:g.124235736T>A , CM000674.1:g.124235736T>A	GRCh37
NC_000012.10:g.122801689T>A	NCBI36
NG_012743.1:g.43872T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012463.4:c.2015T>A MANE Select	NP_036595.2:p.Leu672Ter
ENST00000330342.8:c.2015T>A MANE Select	ENSP00000332247.2:p.Leu672Ter
NM_012463.3:c.2015T>A	NP_036595.2:p.Leu672Ter
ENST00000330342.7:c.2015T>A	ENSP00000332247.2:p.Leu672Ter
ENST00000534943.5:c.-146T>A	ENSP00000443726.1:n.-146T>A
ENST00000540368.6:n.2046T>A
ENST00000674794.1:c.2103T>A
ENST00000675260.1:n.1290T>A
ENST00000675344.1:c.*1036T>A	ENSP00000501953.1:n.*1036T>A
XM_005253563.1:c.1936-1094T>A	XP_005253620.1:n.1936-1094T>A
XM_006719317.2:c.1502T>A	XP_006719380.1:p.Leu501Ter
XM_006719318.2:c.1193T>A	XP_006719381.1:p.Leu398Ter
XM_024448910.1:c.1936-1094T>A	XP_024304678.1:n.1936-1094T>A
XM_024448911.1:c.1502T>A	XP_024304679.1:p.Leu501Ter
XM_024448912.1:c.1193T>A	XP_024304680.1:p.Leu398Ter
XR_429088.1:n.2178T>A