Canonical Allele Identifier: CA2548170

Gene: ATP6V1A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113809371G>A , CM000665.2:g.113809371G>A	GRCh38
NC_000003.11:g.113528218G>A , CM000665.1:g.113528218G>A	GRCh37
NC_000003.10:g.115010908G>A	NCBI36
NG_047012.1:g.67353G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001690.4:c.1798G>A MANE Select	NP_001681.2:p.Asp600Asn
ENST00000273398.8:c.1798G>A MANE Select	ENSP00000273398.3:p.Asp600Asn
NM_001690.3:c.1798G>A	NP_001681.2:p.Asp600Asn
ENST00000273398.7:c.1798G>A	ENSP00000273398.3:p.Asp600Asn
ENST00000461496.1:n.444G>A
ENST00000470455.5:c.*1700G>A	ENSP00000420146.1:n.*1700G>A
ENST00000496747.6:c.1699G>A	ENSP00000417545.2:p.Asp567Asn
ENST00000703904.2:c.1798G>A	ENSP00000515542.1:p.Asp600Asn
ENST00000703908.1:c.868G>A	ENSP00000515545.1:p.Asp290Asn
ENST00000703909.1:c.*27G>A	ENSP00000515546.1:n.*27G>A
ENST00000703910.1:c.1798G>A	ENSP00000515547.1:p.Asp600Asn
ENST00000703911.1:c.1798G>A	ENSP00000515548.1:p.Asp600Asn
ENST00000703912.1:n.586G>A
ENST00000703913.1:n.460G>A