Canonical Allele Identifier: CA387156317

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124228776T>A (hg19) ; chr12:g.123744229T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744229T>A , CM000674.2:g.123744229T>A	GRCh38
NC_000012.11:g.124228776T>A , CM000674.1:g.124228776T>A	GRCh37
NC_000012.10:g.122794729T>A	NCBI36
NG_012743.1:g.36912T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.1218T>A MANE Select	ENSP00000332247.2:p.Phe406Leu
ENST00000540368.6:n.1249T>A
ENST00000674794.1:c.1306T>A
ENST00000675260.1:n.493T>A
ENST00000675344.1:c.*239T>A	ENSP00000501953.1:n.*239T>A
ENST00000330342.7:c.1218T>A	ENSP00000332247.2:p.Phe406Leu
ENST00000504192.2:c.828T>A	ENSP00000443441.1:p.Phe276Leu
ENST00000536426.1:n.235T>A
ENST00000545059.5:n.3854T>A
NM_012463.3:c.1218T>A	NP_036595.2:p.Phe406Leu
XM_005253563.1:c.1218T>A	XP_005253620.1:p.Phe406Leu
XM_006719317.2:c.705T>A	XP_006719380.1:p.Phe235Leu
XM_006719318.2:c.396T>A	XP_006719381.1:p.Phe132Leu
XR_429088.1:n.1381T>A
XM_024448910.1:c.1218T>A	XP_024304678.1:p.Phe406Leu
XM_024448911.1:c.705T>A	XP_024304679.1:p.Phe235Leu
XM_024448912.1:c.396T>A	XP_024304680.1:p.Phe132Leu
NM_012463.4:c.1218T>A MANE Select	NP_036595.2:p.Phe406Leu