Canonical Allele Identifier: CA2525685771

Gene: ATP6V1A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113784166T>C , CM000665.2:g.113784166T>C	GRCh38
NC_000003.11:g.113503013T>C , CM000665.1:g.113503013T>C	GRCh37
NC_000003.10:g.114985703T>C	NCBI36
NG_047012.1:g.42148T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496747.6:c.113-58T>C	ENSP00000417545.2:n.113-58T>C
ENST00000703904.2:c.212-58T>C	ENSP00000515542.1:n.212-58T>C
ENST00000703907.1:n.312-58T>C
ENST00000703908.1:c.212-58T>C	ENSP00000515545.1:n.212-58T>C
ENST00000703909.1:c.212-58T>C	ENSP00000515546.1:n.212-58T>C
ENST00000703910.1:c.212-58T>C	ENSP00000515547.1:n.212-58T>C
ENST00000703911.1:c.212-58T>C	ENSP00000515548.1:n.212-58T>C
ENST00000273398.8:c.212-58T>C MANE Select	ENSP00000273398.3:n.212-58T>C
ENST00000273398.7:c.212-58T>C	ENSP00000273398.3:n.212-58T>C
ENST00000470455.5:c.*114-58T>C	ENSP00000420146.1:n.*114-58T>C
ENST00000475322.1:c.212-58T>C	ENSP00000419294.1:n.212-58T>C
ENST00000496747.5:c.113-58T>C	ENSP00000417545.1:n.113-58T>C
NM_001690.3:c.212-58T>C	NP_001681.2:n.212-58T>C
NM_001690.4:c.212-58T>C MANE Select	NP_001681.2:n.212-58T>C