Canonical Allele Identifier: CA354007665

Gene: ATP6V1A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113784311A>T , CM000665.2:g.113784311A>T	GRCh38
NC_000003.11:g.113503158A>T , CM000665.1:g.113503158A>T	GRCh37
NC_000003.10:g.114985848A>T	NCBI36
NG_047012.1:g.42293A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001690.4:c.299A>T MANE Select	NP_001681.2:p.Asp100Val
ENST00000273398.8:c.299A>T MANE Select	ENSP00000273398.3:p.Asp100Val
NM_001690.3:c.299A>T	NP_001681.2:p.Asp100Val
ENST00000273398.7:c.299A>T	ENSP00000273398.3:p.Asp100Val
ENST00000470455.5:c.*201A>T	ENSP00000420146.1:n.*201A>T
ENST00000475322.1:c.299A>T	ENSP00000419294.1:p.Asp100Val
ENST00000496747.5:c.200A>T	ENSP00000417545.1:p.Asp67Val
ENST00000496747.6:c.200A>T	ENSP00000417545.2:p.Asp67Val
ENST00000703904.2:c.299A>T	ENSP00000515542.1:p.Asp100Val
ENST00000703907.1:n.399A>T
ENST00000703908.1:c.299A>T	ENSP00000515545.1:p.Asp100Val
ENST00000703909.1:c.299A>T	ENSP00000515546.1:p.Asp100Val
ENST00000703910.1:c.299A>T	ENSP00000515547.1:p.Asp100Val
ENST00000703911.1:c.299A>T	ENSP00000515548.1:p.Asp100Val