Canonical Allele Identifier: CA4504643

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs773128017
• ExAC: 7:138417697 G / T
• gnomAD v2: 7-138417697-G-T
• gnomAD v4: 7-138732952-G-T
• MyVariant Identifiers: chr7:g.138417697G>T (hg19) ; chr7:g.138732952G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138732952G>T , CM000669.2:g.138732952G>T	GRCh38
NC_000007.13:g.138417697G>T , CM000669.1:g.138417697G>T	GRCh37
NC_000007.12:g.138068237G>T	NCBI36
NG_008145.1:g.70245C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.1833C>A MANE Select	ENSP00000308122.2:p.Ser611Arg
ENST00000478480.2:c.1059C>A	ENSP00000495261.1:p.Ser353Arg
ENST00000644341.1:c.1059C>A	ENSP00000495642.1:p.Ser353Arg
ENST00000645515.1:c.1833C>A	ENSP00000496421.1:p.Ser611Arg
ENST00000647427.1:c.726C>A	ENSP00000496259.1:p.Ser242Arg
ENST00000310018.6:c.1833C>A	ENSP00000308122.2:p.Ser611Arg
ENST00000353492.4:c.1833C>A	ENSP00000253856.6:p.Ser611Arg
ENST00000393054.5:c.1833C>A	ENSP00000376774.1:p.Ser611Arg
NM_020632.2:c.1833C>A	NP_065683.2:p.Ser611Arg
NM_130840.2:c.1833C>A	NP_570855.2:p.Ser611Arg
NM_130841.2:c.1833C>A	NP_570856.2:p.Ser611Arg
XM_005250393.1:c.1833C>A	XP_005250450.1:p.Ser611Arg
XM_005250394.2:c.1833C>A	XP_005250451.1:p.Ser611Arg
XM_005250394.3:c.1833C>A	XP_005250451.1:p.Ser611Arg
NM_020632.3:c.1833C>A MANE Select	NP_065683.2:p.Ser611Arg
NM_130840.3:c.1833C>A	NP_570855.2:p.Ser611Arg
NM_130841.3:c.1833C>A	NP_570856.2:p.Ser611Arg