Canonical Allele Identifier: CA434944939

Gene: ATP6V1A

Linked Data

• MyVariant Identifiers: chr3:g.113503078G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113784231G>T , CM000665.2:g.113784231G>T	GRCh38
NC_000003.11:g.113503078G>T , CM000665.1:g.113503078G>T	GRCh37
NC_000003.10:g.114985768G>T	NCBI36
NG_047012.1:g.42213G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496747.6:c.120G>T	ENSP00000417545.2:p.Val40=
ENST00000703904.2:c.219G>T	ENSP00000515542.1:p.Val73=
ENST00000703907.1:n.319G>T
ENST00000703908.1:c.219G>T	ENSP00000515545.1:p.Val73=
ENST00000703909.1:c.219G>T	ENSP00000515546.1:p.Val73=
ENST00000703910.1:c.219G>T	ENSP00000515547.1:p.Val73=
ENST00000703911.1:c.219G>T	ENSP00000515548.1:p.Val73=
ENST00000273398.8:c.219G>T MANE Select	ENSP00000273398.3:p.Val73=
ENST00000273398.7:c.219G>T	ENSP00000273398.3:p.Val73=
ENST00000470455.5:c.*121G>T	ENSP00000420146.1:n.*121G>T
ENST00000475322.1:c.219G>T	ENSP00000419294.1:p.Val73=
ENST00000496747.5:c.120G>T	ENSP00000417545.1:p.Val40=
NM_001690.3:c.219G>T	NP_001681.2:p.Val73=
NM_001690.4:c.219G>T MANE Select	NP_001681.2:p.Val73=