Canonical Allele Identifier: CA2547908

Gene: ATP6V1A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113788730C>G , CM000665.2:g.113788730C>G	GRCh38
NC_000003.11:g.113507577C>G , CM000665.1:g.113507577C>G	GRCh37
NC_000003.10:g.114990267C>G	NCBI36
NG_047012.1:g.46712C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001690.4:c.734C>G MANE Select	NP_001681.2:p.Thr245Ser
ENST00000273398.8:c.734C>G MANE Select	ENSP00000273398.3:p.Thr245Ser
NM_001690.3:c.734C>G	NP_001681.2:p.Thr245Ser
ENST00000273398.7:c.734C>G	ENSP00000273398.3:p.Thr245Ser
ENST00000470455.5:c.*636C>G	ENSP00000420146.1:n.*636C>G
ENST00000496747.6:c.635C>G	ENSP00000417545.2:p.Thr212Ser
ENST00000703904.2:c.734C>G	ENSP00000515542.1:p.Thr245Ser
ENST00000703908.1:c.564+3897C>G	ENSP00000515545.1:n.564+3897C>G
ENST00000703909.1:c.734C>G	ENSP00000515546.1:p.Thr245Ser
ENST00000703910.1:c.734C>G	ENSP00000515547.1:p.Thr245Ser
ENST00000703911.1:c.734C>G	ENSP00000515548.1:p.Thr245Ser