Canonical Allele Identifier: CA4505156
Gene: ATP6V0A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 280715
ClinVar RCV Id: RCV000287838
dbSNP Id: rs779869631

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138762983G>A , CM000669.2:g.138762983G>A GRCh38
NC_000007.13:g.138447728G>A , CM000669.1:g.138447728G>A GRCh37
NC_000007.12:g.138098268G>A NCBI36
NG_008145.1:g.40214C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000310018.7:c.334C>T MANE Select ENSP00000308122.2:p.Gln112Ter
ENST00000645515.1:c.334C>T ENSP00000496421.1:p.Gln112Ter
ENST00000310018.6:c.334C>T ENSP00000308122.2:p.Gln112Ter
ENST00000353492.4:c.334C>T ENSP00000253856.6:p.Gln112Ter
ENST00000393054.5:c.334C>T ENSP00000376774.1:p.Gln112Ter
ENST00000483139.1:n.583C>T
NM_020632.2:c.334C>T NP_065683.2:p.Gln112Ter
NM_130840.2:c.334C>T NP_570855.2:p.Gln112Ter
NM_130841.2:c.334C>T NP_570856.2:p.Gln112Ter
XM_005250393.1:c.334C>T XP_005250450.1:p.Gln112Ter
XM_005250394.2:c.334C>T XP_005250451.1:p.Gln112Ter
XM_005250394.3:c.334C>T XP_005250451.1:p.Gln112Ter
NM_020632.3:c.334C>T MANE Select NP_065683.2:p.Gln112Ter
NM_130840.3:c.334C>T NP_570855.2:p.Gln112Ter
NM_130841.3:c.334C>T NP_570856.2:p.Gln112Ter