Canonical Allele Identifier: CA482270963

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124228825T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744278T>C , CM000674.2:g.123744278T>C	GRCh38
NC_000012.11:g.124228825T>C , CM000674.1:g.124228825T>C	GRCh37
NC_000012.10:g.122794778T>C	NCBI36
NG_012743.1:g.36961T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1267T>C MANE Select	ENSP00000332247.2:p.Leu423=
ENST00000540368.6:n.1298T>C
ENST00000674794.1:c.1355T>C
ENST00000675260.1:n.542T>C
ENST00000675344.1:c.*288T>C	ENSP00000501953.1:n.*288T>C
ENST00000330342.7:c.1267T>C	ENSP00000332247.2:p.Leu423=
ENST00000504192.2:c.877T>C	ENSP00000443441.1:p.Leu293=
ENST00000536426.1:n.284T>C
ENST00000545059.5:n.3903T>C
NM_012463.3:c.1267T>C	NP_036595.2:p.Leu423=
XM_005253563.1:c.1267T>C	XP_005253620.1:p.Leu423=
XM_006719317.2:c.754T>C	XP_006719380.1:p.Leu252=
XM_006719318.2:c.445T>C	XP_006719381.1:p.Leu149=
XR_429088.1:n.1430T>C
XM_024448910.1:c.1267T>C	XP_024304678.1:p.Leu423=
XM_024448911.1:c.754T>C	XP_024304679.1:p.Leu252=
XM_024448912.1:c.445T>C	XP_024304680.1:p.Leu149=
NM_012463.4:c.1267T>C MANE Select	NP_036595.2:p.Leu423=