Canonical Allele Identifier: CA369373989
Gene: ATP6V0A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138706701T>A , CM000669.2:g.138706701T>A GRCh38
NC_000007.13:g.138391446T>A , CM000669.1:g.138391446T>A GRCh37
NC_000007.12:g.138041986T>A NCBI36
NG_008145.1:g.96496A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000310018.7:c.2446A>T MANE Select ENSP00000308122.2:p.Lys816Ter
ENST00000478480.2:c.*11A>T ENSP00000495261.1:n.*11A>T
ENST00000644341.1:c.1672A>T ENSP00000495642.1:p.Lys558Ter
ENST00000645515.1:c.2446A>T ENSP00000496421.1:p.Lys816Ter
ENST00000647427.1:c.1221A>T ENSP00000496259.1:n.1221A>T
ENST00000310018.6:c.2446A>T ENSP00000308122.2:p.Lys816Ter
ENST00000353492.4:c.2446A>T ENSP00000253856.6:p.Lys816Ter
ENST00000393054.5:c.2446A>T ENSP00000376774.1:p.Lys816Ter
NM_020632.2:c.2446A>T NP_065683.2:p.Lys816Ter
NM_130840.2:c.2446A>T NP_570855.2:p.Lys816Ter
NM_130841.2:c.2446A>T NP_570856.2:p.Lys816Ter
XM_005250393.1:c.2446A>T XP_005250450.1:p.Lys816Ter
XM_005250394.2:c.2446A>T XP_005250451.1:p.Lys816Ter
XM_005250394.3:c.2446A>T XP_005250451.1:p.Lys816Ter
NM_020632.3:c.2446A>T MANE Select NP_065683.2:p.Lys816Ter
NM_130840.3:c.2446A>T NP_570855.2:p.Lys816Ter
NM_130841.3:c.2446A>T NP_570856.2:p.Lys816Ter