Canonical Allele Identifier: CA369370197

Gene: ATP6V0A4

Linked Data

• ClinVar Variation Id: 2003573
• ClinVar RCV Id: RCV002833274
• gnomAD v4: 7-138739550-C-A
• MyVariant Identifiers: chr7:g.138424295C>A (hg19) ; chr7:g.138739550C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138739550C>A , CM000669.2:g.138739550C>A	GRCh38
NC_000007.13:g.138424295C>A , CM000669.1:g.138424295C>A	GRCh37
NC_000007.12:g.138074835C>A	NCBI36
NG_008145.1:g.63647G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.1562G>T MANE Select	ENSP00000308122.2:p.Gly521Val
ENST00000478480.2:c.788G>T	ENSP00000495261.1:p.Gly263Val
ENST00000644341.1:c.788G>T	ENSP00000495642.1:p.Gly263Val
ENST00000645515.1:c.1562G>T	ENSP00000496421.1:p.Gly521Val
ENST00000647427.1:c.455G>T	ENSP00000496259.1:p.Gly152Val
ENST00000310018.6:c.1562G>T	ENSP00000308122.2:p.Gly521Val
ENST00000353492.4:c.1562G>T	ENSP00000253856.6:p.Gly521Val
ENST00000393054.5:c.1562G>T	ENSP00000376774.1:p.Gly521Val
ENST00000471085.1:n.252-5296G>T
NM_020632.2:c.1562G>T	NP_065683.2:p.Gly521Val
NM_130840.2:c.1562G>T	NP_570855.2:p.Gly521Val
NM_130841.2:c.1562G>T	NP_570856.2:p.Gly521Val
XM_005250393.1:c.1562G>T	XP_005250450.1:p.Gly521Val
XM_005250394.2:c.1562G>T	XP_005250451.1:p.Gly521Val
XM_005250394.3:c.1562G>T	XP_005250451.1:p.Gly521Val
NM_020632.3:c.1562G>T MANE Select	NP_065683.2:p.Gly521Val
NM_130840.3:c.1562G>T	NP_570855.2:p.Gly521Val
NM_130841.3:c.1562G>T	NP_570856.2:p.Gly521Val