Canonical Allele Identifier: CA10623310

Gene: ATP6V0A4

Linked Data

• ClinVar Variation Id: 359001
• ClinVar RCV Id: RCV000324731 ; RCV001683428
• dbSNP Id: rs75920897
• gnomAD v2: 7-138391258-G-T
• gnomAD v3: 7-138706513-G-T
• gnomAD v4: 7-138706513-G-T
• MyVariant Identifiers: chr7:g.138391258G>T (hg19) ; chr7:g.138706513G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706513G>T , CM000669.2:g.138706513G>T	GRCh38
NC_000007.13:g.138391258G>T , CM000669.1:g.138391258G>T	GRCh37
NC_000007.12:g.138041798G>T	NCBI36
NG_008145.1:g.96684C>A
NG_051552.1:g.35C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.*111C>A MANE Select	ENSP00000308122.2:n.*111C>A
ENST00000478480.2:c.*199C>A	ENSP00000495261.1:n.*199C>A
ENST00000644341.1:c.*111C>A	ENSP00000495642.1:n.*111C>A
ENST00000645515.1:c.*111C>A	ENSP00000496421.1:n.*111C>A
ENST00000647427.1:c.1409C>A	ENSP00000496259.1:n.1409C>A
ENST00000310018.6:c.*111C>A	ENSP00000308122.2:n.*111C>A
ENST00000393054.5:c.*111C>A	ENSP00000376774.1:n.*111C>A
NM_020632.2:c.*111C>A	NP_065683.2:n.*111C>A
NM_130840.2:c.*111C>A	NP_570855.2:n.*111C>A
NM_130841.2:c.*111C>A	NP_570856.2:n.*111C>A
XM_005250393.1:c.*111C>A	XP_005250450.1:n.*111C>A
XM_005250394.2:c.*111C>A	XP_005250451.1:n.*111C>A
XM_005250394.3:c.*111C>A	XP_005250451.1:n.*111C>A
NM_020632.3:c.*111C>A MANE Select	NP_065683.2:n.*111C>A
NM_130840.3:c.*111C>A	NP_570855.2:n.*111C>A
NM_130841.3:c.*111C>A	NP_570856.2:n.*111C>A