Canonical Allele Identifier: CA394387989

Gene: ATP6V0C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2519560G>A , CM000678.2:g.2519560G>A	GRCh38
NC_000016.9:g.2569561G>A , CM000678.1:g.2569561G>A	GRCh37
NC_000016.8:g.2509562G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330398.9:c.283G>A MANE Select	ENSP00000329757.4:p.Ala95Thr
ENST00000330398.8:c.283G>A	ENSP00000329757.4:p.Ala95Thr
ENST00000564543.1:c.*38G>A	ENSP00000455547.1:n.*38G>A
ENST00000564973.1:c.154G>A	ENSP00000454868.1:p.Ala52Thr
ENST00000565223.1:c.154G>A	ENSP00000457782.1:p.Ala52Thr
ENST00000568562.1:c.*38G>A	ENSP00000454597.1:n.*38G>A
ENST00000569317.1:c.80-1424G>A	ENSP00000455561.1:n.80-1424G>A
NM_001198569.1:c.283G>A	NP_001185498.1:p.Ala95Thr
NM_001694.3:c.283G>A	NP_001685.1:p.Ala95Thr
NM_001694.4:c.283G>A MANE Select	NP_001685.1:p.Ala95Thr
NM_001198569.2:c.283G>A	NP_001185498.1:p.Ala95Thr