Canonical Allele Identifier: CA2621698242

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123734020A>G , CM000674.2:g.123734020A>G	GRCh38
NC_000012.11:g.124218567A>G , CM000674.1:g.124218567A>G	GRCh37
NC_000012.10:g.122784520A>G	NCBI36
NG_012743.1:g.26703A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_012463.4:c.731+12A>G MANE Select	NP_036595.2:n.731+12A>G
ENST00000330342.8:c.731+12A>G MANE Select	ENSP00000332247.2:n.731+12A>G
NM_012463.3:c.731+12A>G	NP_036595.2:n.731+12A>G
ENST00000330342.7:c.731+12A>G	ENSP00000332247.2:n.731+12A>G
ENST00000504192.2:c.341+12A>G	ENSP00000443441.1:n.341+12A>G
ENST00000540368.5:n.941+12A>G
ENST00000540368.6:n.762+12A>G
ENST00000545059.5:n.3367+12A>G
ENST00000613625.4:c.731+12A>G	ENSP00000482236.1:n.731+12A>G
ENST00000613625.5:c.731+12A>G	ENSP00000482236.1:n.731+12A>G
ENST00000674794.1:c.171+12A>G
ENST00000675344.1:c.731+12A>G	ENSP00000501953.1:n.731+12A>G
XM_005253563.1:c.731+12A>G	XP_005253620.1:n.731+12A>G
XM_006719317.2:c.218+12A>G	XP_006719380.1:n.218+12A>G
XM_024448910.1:c.731+12A>G	XP_024304678.1:n.731+12A>G
XM_024448911.1:c.218+12A>G	XP_024304679.1:n.218+12A>G
XR_429088.1:n.894+12A>G