Canonical Allele Identifier: CA354013260

Gene: ATP6V1A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113788729A>T , CM000665.2:g.113788729A>T	GRCh38
NC_000003.11:g.113507576A>T , CM000665.1:g.113507576A>T	GRCh37
NC_000003.10:g.114990266A>T	NCBI36
NG_047012.1:g.46711A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001690.4:c.733A>T MANE Select	NP_001681.2:p.Thr245Ser
ENST00000273398.8:c.733A>T MANE Select	ENSP00000273398.3:p.Thr245Ser
NM_001690.3:c.733A>T	NP_001681.2:p.Thr245Ser
ENST00000273398.7:c.733A>T	ENSP00000273398.3:p.Thr245Ser
ENST00000470455.5:c.*635A>T	ENSP00000420146.1:n.*635A>T
ENST00000496747.6:c.634A>T	ENSP00000417545.2:p.Thr212Ser
ENST00000703904.2:c.733A>T	ENSP00000515542.1:p.Thr245Ser
ENST00000703908.1:c.564+3896A>T	ENSP00000515545.1:n.564+3896A>T
ENST00000703909.1:c.733A>T	ENSP00000515546.1:p.Thr245Ser
ENST00000703910.1:c.733A>T	ENSP00000515547.1:p.Thr245Ser
ENST00000703911.1:c.733A>T	ENSP00000515548.1:p.Thr245Ser