Canonical Allele Identifier: CA2667032368

Gene: ATP6V1A

Linked Data

• gnomAD v4: 3-113784164-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113784164T>G , CM000665.2:g.113784164T>G	GRCh38
NC_000003.11:g.113503011T>G , CM000665.1:g.113503011T>G	GRCh37
NC_000003.10:g.114985701T>G	NCBI36
NG_047012.1:g.42146T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496747.6:c.113-60T>G	ENSP00000417545.2:n.113-60T>G
ENST00000703904.2:c.212-60T>G	ENSP00000515542.1:n.212-60T>G
ENST00000703907.1:n.312-60T>G
ENST00000703908.1:c.212-60T>G	ENSP00000515545.1:n.212-60T>G
ENST00000703909.1:c.212-60T>G	ENSP00000515546.1:n.212-60T>G
ENST00000703910.1:c.212-60T>G	ENSP00000515547.1:n.212-60T>G
ENST00000703911.1:c.212-60T>G	ENSP00000515548.1:n.212-60T>G
ENST00000273398.8:c.212-60T>G MANE Select	ENSP00000273398.3:n.212-60T>G
ENST00000273398.7:c.212-60T>G	ENSP00000273398.3:n.212-60T>G
ENST00000470455.5:c.*114-60T>G	ENSP00000420146.1:n.*114-60T>G
ENST00000475322.1:c.212-60T>G	ENSP00000419294.1:n.212-60T>G
ENST00000496747.5:c.113-60T>G	ENSP00000417545.1:n.113-60T>G
NM_001690.3:c.212-60T>G	NP_001681.2:n.212-60T>G
NM_001690.4:c.212-60T>G MANE Select	NP_001681.2:n.212-60T>G