Canonical Allele Identifier: CA10562744

Gene: ATP6AP1

Linked Data

• dbSNP Id: rs782264629
• ExAC: X:153663602 C / T
• gnomAD v2: X-153663602-C-T
• gnomAD v3: X-154435256-C-T
• gnomAD v4: X-154435256-C-T
• MyVariant Identifiers: chrX:g.153663602C>T (hg19) ; chrX:g.154435256C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154435256C>T , CM000685.2:g.154435256C>T	GRCh38
NC_000023.10:g.153663602C>T , CM000685.1:g.153663602C>T	GRCh37
NC_000023.9:g.153316796C>T	NCBI36
NG_008954.1:g.3344C>T
NG_052807.1:g.11625C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369762.7:c.972-18C>T MANE Select	ENSP00000358777.2:n.972-18C>T
ENST00000439372.6:c.*934-18C>T	ENSP00000408317.1:n.*934-18C>T
ENST00000484908.2:n.1498-18C>T
ENST00000619046.5:c.588-18C>T	ENSP00000482243.2:n.588-18C>T
ENST00000677332.1:c.907-18C>T	ENSP00000502914.1:n.907-18C>T
ENST00000677342.1:c.*250-18C>T	ENSP00000503173.1:n.*250-18C>T
ENST00000678317.1:n.1504-18C>T
ENST00000679241.1:c.*38-18C>T	ENSP00000503588.1:n.*38-18C>T
ENST00000369762.6:c.972-18C>T	ENSP00000358777.2:n.972-18C>T
ENST00000422890.5:c.714-18C>T	ENSP00000398511.1:n.714-18C>T
ENST00000429585.5:c.664-18C>T	ENSP00000408470.1:n.664-18C>T
ENST00000455205.5:c.3450-18C>T
ENST00000491569.5:n.1014-18C>T
ENST00000619046.4:c.405-18C>T	ENSP00000482243.1:n.405-18C>T
NM_001183.5:c.972-18C>T	NP_001174.2:n.972-18C>T
XM_011531179.1:c.405-18C>T	XP_011529481.1:n.405-18C>T
NM_001183.6:c.972-18C>T MANE Select	NP_001174.2:n.972-18C>T