Canonical Allele Identifier: CA10562745

Gene: ATP6AP1

Linked Data

• ClinVar Variation Id: 1601997
• ClinVar RCV Id: RCV002127657
• dbSNP Id: rs371934768
• ExAC: X:153663606 G / A
• gnomAD v2: X-153663606-G-A
• gnomAD v3: X-154435260-G-A
• gnomAD v4: X-154435260-G-A
• MyVariant Identifiers: chrX:g.153663606G>A (hg19) ; chrX:g.154435260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154435260G>A , CM000685.2:g.154435260G>A	GRCh38
NC_000023.10:g.153663606G>A , CM000685.1:g.153663606G>A	GRCh37
NC_000023.9:g.153316800G>A	NCBI36
NG_008954.1:g.3348G>A
NG_052807.1:g.11629G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369762.7:c.972-14G>A MANE Select	ENSP00000358777.2:n.972-14G>A
ENST00000439372.6:c.*934-14G>A	ENSP00000408317.1:n.*934-14G>A
ENST00000484908.2:n.1498-14G>A
ENST00000619046.5:c.588-14G>A	ENSP00000482243.2:n.588-14G>A
ENST00000677332.1:c.907-14G>A	ENSP00000502914.1:n.907-14G>A
ENST00000677342.1:c.*250-14G>A	ENSP00000503173.1:n.*250-14G>A
ENST00000678317.1:n.1504-14G>A
ENST00000679241.1:c.*38-14G>A	ENSP00000503588.1:n.*38-14G>A
ENST00000369762.6:c.972-14G>A	ENSP00000358777.2:n.972-14G>A
ENST00000422890.5:c.714-14G>A	ENSP00000398511.1:n.714-14G>A
ENST00000429585.5:c.664-14G>A	ENSP00000408470.1:n.664-14G>A
ENST00000455205.5:c.3450-14G>A
ENST00000491569.5:n.1014-14G>A
ENST00000619046.4:c.405-14G>A	ENSP00000482243.1:n.405-14G>A
NM_001183.5:c.972-14G>A	NP_001174.2:n.972-14G>A
XM_011531179.1:c.405-14G>A	XP_011529481.1:n.405-14G>A
NM_001183.6:c.972-14G>A MANE Select	NP_001174.2:n.972-14G>A