Canonical Allele Identifier: CA369376806
Gene: ATP6V0A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138762954G>T , CM000669.2:g.138762954G>T GRCh38
NC_000007.13:g.138447699G>T , CM000669.1:g.138447699G>T GRCh37
NC_000007.12:g.138098239G>T NCBI36
NG_008145.1:g.40243C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310018.7:c.363C>A MANE Select ENSP00000308122.2:p.Phe121Leu
ENST00000645515.1:c.363C>A ENSP00000496421.1:p.Phe121Leu
ENST00000310018.6:c.363C>A ENSP00000308122.2:p.Phe121Leu
ENST00000353492.4:c.363C>A ENSP00000253856.6:p.Phe121Leu
ENST00000393054.5:c.363C>A ENSP00000376774.1:p.Phe121Leu
ENST00000483139.1:n.612C>A
NM_020632.2:c.363C>A NP_065683.2:p.Phe121Leu
NM_130840.2:c.363C>A NP_570855.2:p.Phe121Leu
NM_130841.2:c.363C>A NP_570856.2:p.Phe121Leu
XM_005250393.1:c.363C>A XP_005250450.1:p.Phe121Leu
XM_005250394.2:c.363C>A XP_005250451.1:p.Phe121Leu
XM_005250394.3:c.363C>A XP_005250451.1:p.Phe121Leu
NM_020632.3:c.363C>A MANE Select NP_065683.2:p.Phe121Leu
NM_130840.3:c.363C>A NP_570855.2:p.Phe121Leu
NM_130841.3:c.363C>A NP_570856.2:p.Phe121Leu