Canonical Allele Identifier: CA834065029

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs1191022117
• gnomAD v3: 7-138706394-T-G
• gnomAD v4: 7-138706394-T-G
• MyVariant Identifiers: chr7:g.138391139T>G (hg19) ; chr7:g.138706394T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706394T>G , CM000669.2:g.138706394T>G	GRCh38
NC_000007.13:g.138391139T>G , CM000669.1:g.138391139T>G	GRCh37
NC_000007.12:g.138041679T>G	NCBI36
NG_008145.1:g.96803A>C
NG_051552.1:g.154A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.*230A>C MANE Select	ENSP00000308122.2:n.*230A>C
ENST00000478480.2:c.*318A>C	ENSP00000495261.1:n.*318A>C
ENST00000644341.1:c.*230A>C	ENSP00000495642.1:n.*230A>C
ENST00000645515.1:c.*230A>C	ENSP00000496421.1:n.*230A>C
ENST00000647427.1:c.1528A>C	ENSP00000496259.1:n.1528A>C
ENST00000310018.6:c.*230A>C	ENSP00000308122.2:n.*230A>C
ENST00000393054.5:c.*230A>C	ENSP00000376774.1:n.*230A>C
NM_020632.2:c.*230A>C	NP_065683.2:n.*230A>C
NM_130840.2:c.*230A>C	NP_570855.2:n.*230A>C
NM_130841.2:c.*230A>C	NP_570856.2:n.*230A>C
XM_005250393.1:c.*230A>C	XP_005250450.1:n.*230A>C
XM_005250394.2:c.*230A>C	XP_005250451.1:n.*230A>C
XM_005250394.3:c.*230A>C	XP_005250451.1:n.*230A>C
NM_020632.3:c.*230A>C MANE Select	NP_065683.2:n.*230A>C
NM_130840.3:c.*230A>C	NP_570855.2:n.*230A>C
NM_130841.3:c.*230A>C	NP_570856.2:n.*230A>C