Canonical Allele Identifier: CA2685126541

Gene: ATP6V0A4

Linked Data

• gnomAD v4: 7-138706433-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706433C>T , CM000669.2:g.138706433C>T	GRCh38
NC_000007.13:g.138391178C>T , CM000669.1:g.138391178C>T	GRCh37
NC_000007.12:g.138041718C>T	NCBI36
NG_008145.1:g.96764G>A
NG_051552.1:g.115G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.*191G>A MANE Select	ENSP00000308122.2:n.*191G>A
ENST00000478480.2:c.*279G>A	ENSP00000495261.1:n.*279G>A
ENST00000644341.1:c.*191G>A	ENSP00000495642.1:n.*191G>A
ENST00000645515.1:c.*191G>A	ENSP00000496421.1:n.*191G>A
ENST00000647427.1:c.1489G>A	ENSP00000496259.1:n.1489G>A
ENST00000310018.6:c.*191G>A	ENSP00000308122.2:n.*191G>A
ENST00000393054.5:c.*191G>A	ENSP00000376774.1:n.*191G>A
NM_020632.2:c.*191G>A	NP_065683.2:n.*191G>A
NM_130840.2:c.*191G>A	NP_570855.2:n.*191G>A
NM_130841.2:c.*191G>A	NP_570856.2:n.*191G>A
XM_005250393.1:c.*191G>A	XP_005250450.1:n.*191G>A
XM_005250394.2:c.*191G>A	XP_005250451.1:n.*191G>A
XM_005250394.3:c.*191G>A	XP_005250451.1:n.*191G>A
NM_020632.3:c.*191G>A MANE Select	NP_065683.2:n.*191G>A
NM_130840.3:c.*191G>A	NP_570855.2:n.*191G>A
NM_130841.3:c.*191G>A	NP_570856.2:n.*191G>A