Canonical Allele Identifier: CA6861895

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs774414697
• ExAC: 12:124228862 C / A
• gnomAD v4: 12-123744315-C-A
• MyVariant Identifiers: chr12:g.124228862C>A (hg19) ; chr12:g.123744315C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744315C>A , CM000674.2:g.123744315C>A	GRCh38
NC_000012.11:g.124228862C>A , CM000674.1:g.124228862C>A	GRCh37
NC_000012.10:g.122794815C>A	NCBI36
NG_012743.1:g.36998C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1304C>A MANE Select	ENSP00000332247.2:p.Pro435His
ENST00000540368.6:n.1335C>A
ENST00000674794.1:c.1392C>A
ENST00000675260.1:n.579C>A
ENST00000675344.1:c.*325C>A	ENSP00000501953.1:n.*325C>A
ENST00000330342.7:c.1304C>A	ENSP00000332247.2:p.Pro435His
ENST00000504192.2:c.914C>A	ENSP00000443441.1:p.Pro305His
ENST00000536426.1:n.321C>A
ENST00000545059.5:n.3940C>A
NM_012463.3:c.1304C>A	NP_036595.2:p.Pro435His
XM_005253563.1:c.1304C>A	XP_005253620.1:p.Pro435His
XM_006719317.2:c.791C>A	XP_006719380.1:p.Pro264His
XM_006719318.2:c.482C>A	XP_006719381.1:p.Pro161His
XR_429088.1:n.1467C>A
XM_024448910.1:c.1304C>A	XP_024304678.1:p.Pro435His
XM_024448911.1:c.791C>A	XP_024304679.1:p.Pro264His
XM_024448912.1:c.482C>A	XP_024304680.1:p.Pro161His
NM_012463.4:c.1304C>A MANE Select	NP_036595.2:p.Pro435His