Canonical Allele Identifier: CA6861882

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs780617314
• ExAC: 12:124228779 A / T
• gnomAD v2: 12-124228779-A-T
• gnomAD v4: 12-123744232-A-T
• MyVariant Identifiers: chr12:g.124228779A>T (hg19) ; chr12:g.123744232A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744232A>T , CM000674.2:g.123744232A>T	GRCh38
NC_000012.11:g.124228779A>T , CM000674.1:g.124228779A>T	GRCh37
NC_000012.10:g.122794732A>T	NCBI36
NG_012743.1:g.36915A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1221A>T MANE Select	ENSP00000332247.2:p.Leu407Phe
ENST00000540368.6:n.1252A>T
ENST00000674794.1:c.1309A>T
ENST00000675260.1:n.496A>T
ENST00000675344.1:c.*242A>T	ENSP00000501953.1:n.*242A>T
ENST00000330342.7:c.1221A>T	ENSP00000332247.2:p.Leu407Phe
ENST00000504192.2:c.831A>T	ENSP00000443441.1:p.Leu277Phe
ENST00000536426.1:n.238A>T
ENST00000545059.5:n.3857A>T
NM_012463.3:c.1221A>T	NP_036595.2:p.Leu407Phe
XM_005253563.1:c.1221A>T	XP_005253620.1:p.Leu407Phe
XM_006719317.2:c.708A>T	XP_006719380.1:p.Leu236Phe
XM_006719318.2:c.399A>T	XP_006719381.1:p.Leu133Phe
XR_429088.1:n.1384A>T
XM_024448910.1:c.1221A>T	XP_024304678.1:p.Leu407Phe
XM_024448911.1:c.708A>T	XP_024304679.1:p.Leu236Phe
XM_024448912.1:c.399A>T	XP_024304680.1:p.Leu133Phe
NM_012463.4:c.1221A>T MANE Select	NP_036595.2:p.Leu407Phe