Canonical Allele Identifier: CA482270884

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124228442G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743895G>C , CM000674.2:g.123743895G>C	GRCh38
NC_000012.11:g.124228442G>C , CM000674.1:g.124228442G>C	GRCh37
NC_000012.10:g.122794395G>C	NCBI36
NG_012743.1:g.36578G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.1149G>C MANE Select	ENSP00000332247.2:p.Val383=
ENST00000540368.6:n.1180G>C
ENST00000674794.1:c.1237G>C
ENST00000675260.1:n.424G>C
ENST00000675344.1:c.*170G>C	ENSP00000501953.1:n.*170G>C
ENST00000330342.7:c.1149G>C	ENSP00000332247.2:p.Val383=
ENST00000504192.2:c.759G>C	ENSP00000443441.1:p.Val253=
ENST00000536426.1:n.166G>C
ENST00000545059.5:n.3785G>C
NM_012463.3:c.1149G>C	NP_036595.2:p.Val383=
XM_005253563.1:c.1149G>C	XP_005253620.1:p.Val383=
XM_006719317.2:c.636G>C	XP_006719380.1:p.Val212=
XM_006719318.2:c.327G>C	XP_006719381.1:p.Val109=
XR_429088.1:n.1312G>C
XM_024448910.1:c.1149G>C	XP_024304678.1:p.Val383=
XM_024448911.1:c.636G>C	XP_024304679.1:p.Val212=
XM_024448912.1:c.327G>C	XP_024304680.1:p.Val109=
NM_012463.4:c.1149G>C MANE Select	NP_036595.2:p.Val383=