Canonical Allele Identifier: CA482270254
Gene: ATP6V0A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.124209329C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123724782C>A , CM000674.2:g.123724782C>A GRCh38
NC_000012.11:g.124209329C>A , CM000674.1:g.124209329C>A GRCh37
NC_000012.10:g.122775282C>A NCBI36
NG_012743.1:g.17465C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330342.8:c.423C>A MANE Select ENSP00000332247.2:p.Arg141=
ENST00000540368.6:n.454C>A
ENST00000613625.5:c.423C>A ENSP00000482236.1:p.Arg141=
ENST00000675344.1:c.423C>A ENSP00000501953.1:p.Arg141=
ENST00000330342.7:c.423C>A ENSP00000332247.2:p.Arg141=
ENST00000504192.2:c.33C>A ENSP00000443441.1:p.Arg11=
ENST00000540368.5:n.633C>A
ENST00000613625.4:c.423C>A ENSP00000482236.1:p.Arg141=
NM_012463.3:c.423C>A NP_036595.2:p.Arg141=
XM_005253563.1:c.423C>A XP_005253620.1:p.Arg141=
XM_006719317.2:c.-2C>A XP_006719380.1:n.-2C>A
XR_429088.1:n.586C>A
XM_024448910.1:c.423C>A XP_024304678.1:p.Arg141=
XM_024448911.1:c.-2C>A XP_024304679.1:n.-2C>A
NM_012463.4:c.423C>A MANE Select NP_036595.2:p.Arg141=