Canonical Allele Identifier: CA387156367

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs1484196299
• gnomAD v2: 12-124228783-G-T
• MyVariant Identifiers: chr12:g.124228783G>T (hg19) ; chr12:g.123744236G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744236G>T , CM000674.2:g.123744236G>T	GRCh38
NC_000012.11:g.124228783G>T , CM000674.1:g.124228783G>T	GRCh37
NC_000012.10:g.122794736G>T	NCBI36
NG_012743.1:g.36919G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1225G>T MANE Select	ENSP00000332247.2:p.Ala409Ser
ENST00000540368.6:n.1256G>T
ENST00000674794.1:c.1313G>T
ENST00000675260.1:n.500G>T
ENST00000675344.1:c.*246G>T	ENSP00000501953.1:n.*246G>T
ENST00000330342.7:c.1225G>T	ENSP00000332247.2:p.Ala409Ser
ENST00000504192.2:c.835G>T	ENSP00000443441.1:p.Ala279Ser
ENST00000536426.1:n.242G>T
ENST00000545059.5:n.3861G>T
NM_012463.3:c.1225G>T	NP_036595.2:p.Ala409Ser
XM_005253563.1:c.1225G>T	XP_005253620.1:p.Ala409Ser
XM_006719317.2:c.712G>T	XP_006719380.1:p.Ala238Ser
XM_006719318.2:c.403G>T	XP_006719381.1:p.Ala135Ser
XR_429088.1:n.1388G>T
XM_024448910.1:c.1225G>T	XP_024304678.1:p.Ala409Ser
XM_024448911.1:c.712G>T	XP_024304679.1:p.Ala238Ser
XM_024448912.1:c.403G>T	XP_024304680.1:p.Ala135Ser
NM_012463.4:c.1225G>T MANE Select	NP_036595.2:p.Ala409Ser