Canonical Allele Identifier: CA10090230

Gene: ATP6V1E1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17619529A>G , CM000684.2:g.17619529A>G	GRCh38
NC_000022.10:g.18102295A>G , CM000684.1:g.18102295A>G	GRCh37
NC_000022.9:g.16482295A>G	NCBI36
NG_009214.1:g.14294T>C
NG_009214.2:g.14294T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001696.4:c.34-3T>C MANE Select	NP_001687.1:n.34-3T>C
ENST00000253413.10:c.34-3T>C MANE Select	ENSP00000253413.5:n.34-3T>C
NM_001039366.1:c.34-6209T>C	NP_001034455.1:n.34-6209T>C
NM_001039367.1:c.34-3T>C	NP_001034456.1:n.34-3T>C
NM_001696.3:c.34-3T>C	NP_001687.1:n.34-3T>C
ENST00000253413.9:c.34-3T>C	ENSP00000253413.5:n.34-3T>C
ENST00000399796.6:c.34-3T>C	ENSP00000382694.2:n.34-3T>C
ENST00000399798.6:c.34-6209T>C	ENSP00000382696.2:n.34-6209T>C
ENST00000413576.1:c.-58-3T>C	ENSP00000398932.1:n.-58-3T>C
ENST00000460085.1:n.148-3T>C
ENST00000478963.5:n.147-3T>C