Canonical Allele Identifier: CA369370192

Gene: ATP6V0A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138739547A>C , CM000669.2:g.138739547A>C	GRCh38
NC_000007.13:g.138424292A>C , CM000669.1:g.138424292A>C	GRCh37
NC_000007.12:g.138074832A>C	NCBI36
NG_008145.1:g.63650T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020632.3:c.1565T>G MANE Select	NP_065683.2:p.Ile522Ser
ENST00000310018.7:c.1565T>G MANE Select	ENSP00000308122.2:p.Ile522Ser
NM_020632.2:c.1565T>G	NP_065683.2:p.Ile522Ser
NM_130840.2:c.1565T>G	NP_570855.2:p.Ile522Ser
NM_130840.3:c.1565T>G	NP_570855.2:p.Ile522Ser
NM_130841.2:c.1565T>G	NP_570856.2:p.Ile522Ser
NM_130841.3:c.1565T>G	NP_570856.2:p.Ile522Ser
ENST00000310018.6:c.1565T>G	ENSP00000308122.2:p.Ile522Ser
ENST00000353492.4:c.1565T>G	ENSP00000253856.6:p.Ile522Ser
ENST00000393054.5:c.1565T>G	ENSP00000376774.1:p.Ile522Ser
ENST00000471085.1:n.252-5293T>G
ENST00000478480.2:c.791T>G	ENSP00000495261.1:p.Ile264Ser
ENST00000644341.1:c.791T>G	ENSP00000495642.1:p.Ile264Ser
ENST00000645515.1:c.1565T>G	ENSP00000496421.1:p.Ile522Ser
ENST00000647427.1:c.458T>G	ENSP00000496259.1:p.Ile153Ser
XM_005250393.1:c.1565T>G	XP_005250450.1:p.Ile522Ser
XM_005250394.2:c.1565T>G	XP_005250451.1:p.Ile522Ser
XM_005250394.3:c.1565T>G	XP_005250451.1:p.Ile522Ser