Canonical Allele Identifier: CA387155749

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs1956634203
• gnomAD v3: 12-123743890-A-C
• gnomAD v4: 12-123743890-A-C
• MyVariant Identifiers: chr12:g.124228437A>C (hg19) ; chr12:g.123743890A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743890A>C , CM000674.2:g.123743890A>C	GRCh38
NC_000012.11:g.124228437A>C , CM000674.1:g.124228437A>C	GRCh37
NC_000012.10:g.122794390A>C	NCBI36
NG_012743.1:g.36573A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1144A>C MANE Select	ENSP00000332247.2:p.Ile382Leu
ENST00000540368.6:n.1175A>C
ENST00000674794.1:c.1232A>C
ENST00000675260.1:n.419A>C
ENST00000675344.1:c.*165A>C	ENSP00000501953.1:n.*165A>C
ENST00000330342.7:c.1144A>C	ENSP00000332247.2:p.Ile382Leu
ENST00000504192.2:c.754A>C	ENSP00000443441.1:p.Ile252Leu
ENST00000536426.1:n.161A>C
ENST00000545059.5:n.3780A>C
NM_012463.3:c.1144A>C	NP_036595.2:p.Ile382Leu
XM_005253563.1:c.1144A>C	XP_005253620.1:p.Ile382Leu
XM_006719317.2:c.631A>C	XP_006719380.1:p.Ile211Leu
XM_006719318.2:c.322A>C	XP_006719381.1:p.Ile108Leu
XR_429088.1:n.1307A>C
XM_024448910.1:c.1144A>C	XP_024304678.1:p.Ile382Leu
XM_024448911.1:c.631A>C	XP_024304679.1:p.Ile211Leu
XM_024448912.1:c.322A>C	XP_024304680.1:p.Ile108Leu
NM_012463.4:c.1144A>C MANE Select	NP_036595.2:p.Ile382Leu