Canonical Allele Identifier: CA387157550

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124229214T>A (hg19) ; chr12:g.123744667T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744667T>A , CM000674.2:g.123744667T>A	GRCh38
NC_000012.11:g.124229214T>A , CM000674.1:g.124229214T>A	GRCh37
NC_000012.10:g.122795167T>A	NCBI36
NG_012743.1:g.37350T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1397T>A MANE Select	ENSP00000332247.2:p.Leu466His
ENST00000540368.6:n.1428T>A
ENST00000674794.1:c.1485T>A
ENST00000675260.1:n.672T>A
ENST00000675344.1:c.*418T>A	ENSP00000501953.1:n.*418T>A
ENST00000330342.7:c.1397T>A	ENSP00000332247.2:p.Leu466His
ENST00000536426.1:n.414T>A
ENST00000545059.5:n.4033T>A
NM_012463.3:c.1397T>A	NP_036595.2:p.Leu466His
XM_005253563.1:c.1397T>A	XP_005253620.1:p.Leu466His
XM_006719317.2:c.884T>A	XP_006719380.1:p.Leu295His
XM_006719318.2:c.575T>A	XP_006719381.1:p.Leu192His
XR_429088.1:n.1560T>A
XM_024448910.1:c.1397T>A	XP_024304678.1:p.Leu466His
XM_024448911.1:c.884T>A	XP_024304679.1:p.Leu295His
XM_024448912.1:c.575T>A	XP_024304680.1:p.Leu192His
NM_012463.4:c.1397T>A MANE Select	NP_036595.2:p.Leu466His