Canonical Allele Identifier: CA369373838

Gene: ATP6V0A4

Linked Data

• dbSNP Id: rs1562971981
• gnomAD v4: 7-138706665-A-G
• MyVariant Identifiers: chr7:g.138391410A>G (hg19) ; chr7:g.138706665A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138706665A>G , CM000669.2:g.138706665A>G	GRCh38
NC_000007.13:g.138391410A>G , CM000669.1:g.138391410A>G	GRCh37
NC_000007.12:g.138041950A>G	NCBI36
NG_008145.1:g.96532T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.2482T>C MANE Select	ENSP00000308122.2:p.Phe828Leu
ENST00000478480.2:c.*47T>C	ENSP00000495261.1:n.*47T>C
ENST00000644341.1:c.1708T>C	ENSP00000495642.1:p.Phe570Leu
ENST00000645515.1:c.2482T>C	ENSP00000496421.1:p.Phe828Leu
ENST00000647427.1:c.1257T>C	ENSP00000496259.1:n.1257T>C
ENST00000310018.6:c.2482T>C	ENSP00000308122.2:p.Phe828Leu
ENST00000353492.4:c.2482T>C	ENSP00000253856.6:p.Phe828Leu
ENST00000393054.5:c.2482T>C	ENSP00000376774.1:p.Phe828Leu
NM_020632.2:c.2482T>C	NP_065683.2:p.Phe828Leu
NM_130840.2:c.2482T>C	NP_570855.2:p.Phe828Leu
NM_130841.2:c.2482T>C	NP_570856.2:p.Phe828Leu
XM_005250393.1:c.2482T>C	XP_005250450.1:p.Phe828Leu
XM_005250394.2:c.2482T>C	XP_005250451.1:p.Phe828Leu
XM_005250394.3:c.2482T>C	XP_005250451.1:p.Phe828Leu
NM_020632.3:c.2482T>C MANE Select	NP_065683.2:p.Phe828Leu
NM_130840.3:c.2482T>C	NP_570855.2:p.Phe828Leu
NM_130841.3:c.2482T>C	NP_570856.2:p.Phe828Leu