Canonical Allele Identifier: CA354006995

Gene: ATP6V1A

Linked Data

• ClinVar Variation Id: 2118151
• ClinVar RCV Id: RCV003030332
• MyVariant Identifiers: chr3:g.113503079T>G (hg19) ; chr3:g.113784232T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113784232T>G , CM000665.2:g.113784232T>G	GRCh38
NC_000003.11:g.113503079T>G , CM000665.1:g.113503079T>G	GRCh37
NC_000003.10:g.114985769T>G	NCBI36
NG_047012.1:g.42214T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496747.6:c.121T>G	ENSP00000417545.2:p.Ser41Ala
ENST00000703904.2:c.220T>G	ENSP00000515542.1:p.Ser74Ala
ENST00000703907.1:n.320T>G
ENST00000703908.1:c.220T>G	ENSP00000515545.1:p.Ser74Ala
ENST00000703909.1:c.220T>G	ENSP00000515546.1:p.Ser74Ala
ENST00000703910.1:c.220T>G	ENSP00000515547.1:p.Ser74Ala
ENST00000703911.1:c.220T>G	ENSP00000515548.1:p.Ser74Ala
ENST00000273398.8:c.220T>G MANE Select	ENSP00000273398.3:p.Ser74Ala
ENST00000273398.7:c.220T>G	ENSP00000273398.3:p.Ser74Ala
ENST00000470455.5:c.*122T>G	ENSP00000420146.1:n.*122T>G
ENST00000475322.1:c.220T>G	ENSP00000419294.1:p.Ser74Ala
ENST00000496747.5:c.121T>G	ENSP00000417545.1:p.Ser41Ala
NM_001690.3:c.220T>G	NP_001681.2:p.Ser74Ala
NM_001690.4:c.220T>G MANE Select	NP_001681.2:p.Ser74Ala