Canonical Allele Identifier: CA354007043

Gene: ATP6V1A

Linked Data

• MyVariant Identifiers: chr3:g.113503088G>A (hg19) ; chr3:g.113784241G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113784241G>A , CM000665.2:g.113784241G>A	GRCh38
NC_000003.11:g.113503088G>A , CM000665.1:g.113503088G>A	GRCh37
NC_000003.10:g.114985778G>A	NCBI36
NG_047012.1:g.42223G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496747.6:c.130G>A	ENSP00000417545.2:p.Asp44Asn
ENST00000703904.2:c.229G>A	ENSP00000515542.1:p.Asp77Asn
ENST00000703907.1:n.329G>A
ENST00000703908.1:c.229G>A	ENSP00000515545.1:p.Asp77Asn
ENST00000703909.1:c.229G>A	ENSP00000515546.1:p.Asp77Asn
ENST00000703910.1:c.229G>A	ENSP00000515547.1:p.Asp77Asn
ENST00000703911.1:c.229G>A	ENSP00000515548.1:p.Asp77Asn
ENST00000273398.8:c.229G>A MANE Select	ENSP00000273398.3:p.Asp77Asn
ENST00000273398.7:c.229G>A	ENSP00000273398.3:p.Asp77Asn
ENST00000470455.5:c.*131G>A	ENSP00000420146.1:n.*131G>A
ENST00000475322.1:c.229G>A	ENSP00000419294.1:p.Asp77Asn
ENST00000496747.5:c.130G>A	ENSP00000417545.1:p.Asp44Asn
NM_001690.3:c.229G>A	NP_001681.2:p.Asp77Asn
NM_001690.4:c.229G>A MANE Select	NP_001681.2:p.Asp77Asn