Canonical Allele Identifier: CA387151584

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123724661T>A , CM000674.2:g.123724661T>A	GRCh38
NC_000012.11:g.124209208T>A , CM000674.1:g.124209208T>A	GRCh37
NC_000012.10:g.122775161T>A	NCBI36
NG_012743.1:g.17344T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012463.4:c.302T>A MANE Select	NP_036595.2:p.Leu101Ter
ENST00000330342.8:c.302T>A MANE Select	ENSP00000332247.2:p.Leu101Ter
NM_012463.3:c.302T>A	NP_036595.2:p.Leu101Ter
ENST00000330342.7:c.302T>A	ENSP00000332247.2:p.Leu101Ter
ENST00000504192.2:c.-89T>A	ENSP00000443441.1:n.-89T>A
ENST00000540368.5:n.512T>A
ENST00000540368.6:n.333T>A
ENST00000613625.4:c.302T>A	ENSP00000482236.1:p.Leu101Ter
ENST00000613625.5:c.302T>A	ENSP00000482236.1:p.Leu101Ter
ENST00000675344.1:c.302T>A	ENSP00000501953.1:p.Leu101Ter
XM_005253563.1:c.302T>A	XP_005253620.1:p.Leu101Ter
XM_024448910.1:c.302T>A	XP_024304678.1:p.Leu101Ter
XR_429088.1:n.465T>A