Canonical Allele Identifier: CA387157447

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs1237294377
• gnomAD v3: 12-123744645-C-A
• gnomAD v4: 12-123744645-C-A
• MyVariant Identifiers: chr12:g.124229192C>A (hg19) ; chr12:g.123744645C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744645C>A , CM000674.2:g.123744645C>A	GRCh38
NC_000012.11:g.124229192C>A , CM000674.1:g.124229192C>A	GRCh37
NC_000012.10:g.122795145C>A	NCBI36
NG_012743.1:g.37328C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1375C>A MANE Select	ENSP00000332247.2:p.Leu459Met
ENST00000540368.6:n.1406C>A
ENST00000674794.1:c.1463C>A
ENST00000675260.1:n.650C>A
ENST00000675344.1:c.*396C>A	ENSP00000501953.1:n.*396C>A
ENST00000330342.7:c.1375C>A	ENSP00000332247.2:p.Leu459Met
ENST00000504192.2:c.985C>A
ENST00000536426.1:n.392C>A
ENST00000545059.5:n.4011C>A
NM_012463.3:c.1375C>A	NP_036595.2:p.Leu459Met
XM_005253563.1:c.1375C>A	XP_005253620.1:p.Leu459Met
XM_006719317.2:c.862C>A	XP_006719380.1:p.Leu288Met
XM_006719318.2:c.553C>A	XP_006719381.1:p.Leu185Met
XR_429088.1:n.1538C>A
XM_024448910.1:c.1375C>A	XP_024304678.1:p.Leu459Met
XM_024448911.1:c.862C>A	XP_024304679.1:p.Leu288Met
XM_024448912.1:c.553C>A	XP_024304680.1:p.Leu185Met
NM_012463.4:c.1375C>A MANE Select	NP_036595.2:p.Leu459Met