Canonical Allele Identifier: CA434944971

Gene: ATP6V1A

Linked Data

• MyVariant Identifiers: chr3:g.113503084T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113784237T>G , CM000665.2:g.113784237T>G	GRCh38
NC_000003.11:g.113503084T>G , CM000665.1:g.113503084T>G	GRCh37
NC_000003.10:g.114985774T>G	NCBI36
NG_047012.1:g.42219T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496747.6:c.126T>G	ENSP00000417545.2:p.Val42=
ENST00000703904.2:c.225T>G	ENSP00000515542.1:p.Val75=
ENST00000703907.1:n.325T>G
ENST00000703908.1:c.225T>G	ENSP00000515545.1:p.Val75=
ENST00000703909.1:c.225T>G	ENSP00000515546.1:p.Val75=
ENST00000703910.1:c.225T>G	ENSP00000515547.1:p.Val75=
ENST00000703911.1:c.225T>G	ENSP00000515548.1:p.Val75=
ENST00000273398.8:c.225T>G MANE Select	ENSP00000273398.3:p.Val75=
ENST00000273398.7:c.225T>G	ENSP00000273398.3:p.Val75=
ENST00000470455.5:c.*127T>G	ENSP00000420146.1:n.*127T>G
ENST00000475322.1:c.225T>G	ENSP00000419294.1:p.Val75=
ENST00000496747.5:c.126T>G	ENSP00000417545.1:p.Val42=
NM_001690.3:c.225T>G	NP_001681.2:p.Val75=
NM_001690.4:c.225T>G MANE Select	NP_001681.2:p.Val75=