Canonical Allele Identifier: CA387157529

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123744661-C-T
• MyVariant Identifiers: chr12:g.124229208C>T (hg19) ; chr12:g.123744661C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744661C>T , CM000674.2:g.123744661C>T	GRCh38
NC_000012.11:g.124229208C>T , CM000674.1:g.124229208C>T	GRCh37
NC_000012.10:g.122795161C>T	NCBI36
NG_012743.1:g.37344C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1391C>T MANE Select	ENSP00000332247.2:p.Thr464Ile
ENST00000540368.6:n.1422C>T
ENST00000674794.1:c.1479C>T
ENST00000675260.1:n.666C>T
ENST00000675344.1:c.*412C>T	ENSP00000501953.1:n.*412C>T
ENST00000330342.7:c.1391C>T	ENSP00000332247.2:p.Thr464Ile
ENST00000536426.1:n.408C>T
ENST00000545059.5:n.4027C>T
NM_012463.3:c.1391C>T	NP_036595.2:p.Thr464Ile
XM_005253563.1:c.1391C>T	XP_005253620.1:p.Thr464Ile
XM_006719317.2:c.878C>T	XP_006719380.1:p.Thr293Ile
XM_006719318.2:c.569C>T	XP_006719381.1:p.Thr190Ile
XR_429088.1:n.1554C>T
XM_024448910.1:c.1391C>T	XP_024304678.1:p.Thr464Ile
XM_024448911.1:c.878C>T	XP_024304679.1:p.Thr293Ile
XM_024448912.1:c.569C>T	XP_024304680.1:p.Thr190Ile
NM_012463.4:c.1391C>T MANE Select	NP_036595.2:p.Thr464Ile