Canonical Allele Identifier: CA369373970

Gene: ATP6V0A4

Linked Data

• MyVariant Identifiers: chr7:g.138391443A>G (hg19) ; chr7:g.138706698A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706698A>G , CM000669.2:g.138706698A>G	GRCh38
NC_000007.13:g.138391443A>G , CM000669.1:g.138391443A>G	GRCh37
NC_000007.12:g.138041983A>G	NCBI36
NG_008145.1:g.96499T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.2449T>C MANE Select	ENSP00000308122.2:p.Phe817Leu
ENST00000478480.2:c.*14T>C	ENSP00000495261.1:n.*14T>C
ENST00000644341.1:c.1675T>C	ENSP00000495642.1:p.Phe559Leu
ENST00000645515.1:c.2449T>C	ENSP00000496421.1:p.Phe817Leu
ENST00000647427.1:c.1224T>C	ENSP00000496259.1:n.1224T>C
ENST00000310018.6:c.2449T>C	ENSP00000308122.2:p.Phe817Leu
ENST00000353492.4:c.2449T>C	ENSP00000253856.6:p.Phe817Leu
ENST00000393054.5:c.2449T>C	ENSP00000376774.1:p.Phe817Leu
NM_020632.2:c.2449T>C	NP_065683.2:p.Phe817Leu
NM_130840.2:c.2449T>C	NP_570855.2:p.Phe817Leu
NM_130841.2:c.2449T>C	NP_570856.2:p.Phe817Leu
XM_005250393.1:c.2449T>C	XP_005250450.1:p.Phe817Leu
XM_005250394.2:c.2449T>C	XP_005250451.1:p.Phe817Leu
XM_005250394.3:c.2449T>C	XP_005250451.1:p.Phe817Leu
NM_020632.3:c.2449T>C MANE Select	NP_065683.2:p.Phe817Leu
NM_130840.3:c.2449T>C	NP_570855.2:p.Phe817Leu
NM_130841.3:c.2449T>C	NP_570856.2:p.Phe817Leu