Canonical Allele Identifier: CA387157440

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123744643-G-T
• MyVariant Identifiers: chr12:g.124229190G>T (hg19) ; chr12:g.123744643G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744643G>T , CM000674.2:g.123744643G>T	GRCh38
NC_000012.11:g.124229190G>T , CM000674.1:g.124229190G>T	GRCh37
NC_000012.10:g.122795143G>T	NCBI36
NG_012743.1:g.37326G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1373G>T MANE Select	ENSP00000332247.2:p.Gly458Val
ENST00000540368.6:n.1404G>T
ENST00000674794.1:c.1461G>T
ENST00000675260.1:n.648G>T
ENST00000675344.1:c.*394G>T	ENSP00000501953.1:n.*394G>T
ENST00000330342.7:c.1373G>T	ENSP00000332247.2:p.Gly458Val
ENST00000504192.2:c.983G>T	ENSP00000443441.1:p.Gly328Val
ENST00000536426.1:n.390G>T
ENST00000545059.5:n.4009G>T
NM_012463.3:c.1373G>T	NP_036595.2:p.Gly458Val
XM_005253563.1:c.1373G>T	XP_005253620.1:p.Gly458Val
XM_006719317.2:c.860G>T	XP_006719380.1:p.Gly287Val
XM_006719318.2:c.551G>T	XP_006719381.1:p.Gly184Val
XR_429088.1:n.1536G>T
XM_024448910.1:c.1373G>T	XP_024304678.1:p.Gly458Val
XM_024448911.1:c.860G>T	XP_024304679.1:p.Gly287Val
XM_024448912.1:c.551G>T	XP_024304680.1:p.Gly184Val
NM_012463.4:c.1373G>T MANE Select	NP_036595.2:p.Gly458Val