Canonical Allele Identifier: CA4505027
Gene: ATP6V0A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138756413T>A , CM000669.2:g.138756413T>A GRCh38
NC_000007.13:g.138441158T>A , CM000669.1:g.138441158T>A GRCh37
NC_000007.12:g.138091698T>A NCBI36
NG_008145.1:g.46784A>T

Transcript Alleles

HGVS Amino-acid Change
NM_020632.3:c.722+45A>T MANE Select NP_065683.2:n.722+45A>T
ENST00000310018.7:c.722+45A>T MANE Select ENSP00000308122.2:n.722+45A>T
NM_020632.2:c.722+45A>T NP_065683.2:n.722+45A>T
NM_130840.2:c.722+45A>T NP_570855.2:n.722+45A>T
NM_130840.3:c.722+45A>T NP_570855.2:n.722+45A>T
NM_130841.2:c.722+45A>T NP_570856.2:n.722+45A>T
NM_130841.3:c.722+45A>T NP_570856.2:n.722+45A>T
ENST00000310018.6:c.722+45A>T ENSP00000308122.2:n.722+45A>T
ENST00000353492.4:c.722+45A>T ENSP00000253856.6:n.722+45A>T
ENST00000393054.5:c.722+45A>T ENSP00000376774.1:n.722+45A>T
ENST00000645515.1:c.722+45A>T ENSP00000496421.1:n.722+45A>T
XM_005250393.1:c.722+45A>T XP_005250450.1:n.722+45A>T
XM_005250394.2:c.722+45A>T XP_005250451.1:n.722+45A>T
XM_005250394.3:c.722+45A>T XP_005250451.1:n.722+45A>T