Canonical Allele Identifier: CA387156803

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 1719298
• ClinVar RCV Id: RCV002302058
• MyVariant Identifiers: chr12:g.124228867C>A (hg19) ; chr12:g.123744320C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744320C>A , CM000674.2:g.123744320C>A	GRCh38
NC_000012.11:g.124228867C>A , CM000674.1:g.124228867C>A	GRCh37
NC_000012.10:g.122794820C>A	NCBI36
NG_012743.1:g.37003C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1309C>A MANE Select	ENSP00000332247.2:p.Leu437Ile
ENST00000540368.6:n.1340C>A
ENST00000674794.1:c.1397C>A
ENST00000675260.1:n.584C>A
ENST00000675344.1:c.*330C>A	ENSP00000501953.1:n.*330C>A
ENST00000330342.7:c.1309C>A	ENSP00000332247.2:p.Leu437Ile
ENST00000504192.2:c.919C>A	ENSP00000443441.1:p.Leu307Ile
ENST00000536426.1:n.326C>A
ENST00000545059.5:n.3945C>A
NM_012463.3:c.1309C>A	NP_036595.2:p.Leu437Ile
XM_005253563.1:c.1309C>A	XP_005253620.1:p.Leu437Ile
XM_006719317.2:c.796C>A	XP_006719380.1:p.Leu266Ile
XM_006719318.2:c.487C>A	XP_006719381.1:p.Leu163Ile
XR_429088.1:n.1472C>A
XM_024448910.1:c.1309C>A	XP_024304678.1:p.Leu437Ile
XM_024448911.1:c.796C>A	XP_024304679.1:p.Leu266Ile
XM_024448912.1:c.487C>A	XP_024304680.1:p.Leu163Ile
NM_012463.4:c.1309C>A MANE Select	NP_036595.2:p.Leu437Ile