Canonical Allele Identifier: CA387157387

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123744630-C-G
• MyVariant Identifiers: chr12:g.124229177C>G (hg19) ; chr12:g.123744630C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744630C>G , CM000674.2:g.123744630C>G	GRCh38
NC_000012.11:g.124229177C>G , CM000674.1:g.124229177C>G	GRCh37
NC_000012.10:g.122795130C>G	NCBI36
NG_012743.1:g.37313C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1360C>G MANE Select	ENSP00000332247.2:p.Leu454Val
ENST00000540368.6:n.1391C>G
ENST00000674794.1:c.1448C>G
ENST00000675260.1:n.635C>G
ENST00000675344.1:c.*381C>G	ENSP00000501953.1:n.*381C>G
ENST00000330342.7:c.1360C>G	ENSP00000332247.2:p.Leu454Val
ENST00000504192.2:c.970C>G	ENSP00000443441.1:p.Leu324Val
ENST00000536426.1:n.377C>G
ENST00000545059.5:n.3996C>G
NM_012463.3:c.1360C>G	NP_036595.2:p.Leu454Val
XM_005253563.1:c.1360C>G	XP_005253620.1:p.Leu454Val
XM_006719317.2:c.847C>G	XP_006719380.1:p.Leu283Val
XM_006719318.2:c.538C>G	XP_006719381.1:p.Leu180Val
XR_429088.1:n.1523C>G
XM_024448910.1:c.1360C>G	XP_024304678.1:p.Leu454Val
XM_024448911.1:c.847C>G	XP_024304679.1:p.Leu283Val
XM_024448912.1:c.538C>G	XP_024304680.1:p.Leu180Val
NM_012463.4:c.1360C>G MANE Select	NP_036595.2:p.Leu454Val