Canonical Allele Identifier: CA1746763647

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs1803367818
• gnomAD v4: 7-138706403-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706403A>C , CM000669.2:g.138706403A>C	GRCh38
NC_000007.13:g.138391148A>C , CM000669.1:g.138391148A>C	GRCh37
NC_000007.12:g.138041688A>C	NCBI36
NG_008145.1:g.96794T>G
NG_051552.1:g.145T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.*221T>G MANE Select	ENSP00000308122.2:n.*221T>G
ENST00000478480.2:c.*309T>G	ENSP00000495261.1:n.*309T>G
ENST00000644341.1:c.*221T>G	ENSP00000495642.1:n.*221T>G
ENST00000645515.1:c.*221T>G	ENSP00000496421.1:n.*221T>G
ENST00000647427.1:c.1519T>G	ENSP00000496259.1:n.1519T>G
ENST00000310018.6:c.*221T>G	ENSP00000308122.2:n.*221T>G
ENST00000393054.5:c.*221T>G	ENSP00000376774.1:n.*221T>G
NM_020632.2:c.*221T>G	NP_065683.2:n.*221T>G
NM_130840.2:c.*221T>G	NP_570855.2:n.*221T>G
NM_130841.2:c.*221T>G	NP_570856.2:n.*221T>G
XM_005250393.1:c.*221T>G	XP_005250450.1:n.*221T>G
XM_005250394.2:c.*221T>G	XP_005250451.1:n.*221T>G
XM_005250394.3:c.*221T>G	XP_005250451.1:n.*221T>G
NM_020632.3:c.*221T>G MANE Select	NP_065683.2:n.*221T>G
NM_130840.3:c.*221T>G	NP_570855.2:n.*221T>G
NM_130841.3:c.*221T>G	NP_570856.2:n.*221T>G