Canonical Allele Identifier: CA2395175406

Gene: ATP6V1E1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17612893T>G , CM000684.2:g.17612893T>G	GRCh38
NC_000022.10:g.18095659T>G , CM000684.1:g.18095659T>G	GRCh37
NC_000022.9:g.16475659T>G	NCBI36
NG_009214.1:g.20930A>C
NG_009214.2:g.20930A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001696.4:c.210-15A>C MANE Select	NP_001687.1:n.210-15A>C
ENST00000253413.10:c.210-15A>C MANE Select	ENSP00000253413.5:n.210-15A>C
NM_001039366.1:c.144-15A>C	NP_001034455.1:n.144-15A>C
NM_001039367.1:c.210-15A>C	NP_001034456.1:n.210-15A>C
NM_001696.3:c.210-15A>C	NP_001687.1:n.210-15A>C
ENST00000253413.9:c.210-15A>C	ENSP00000253413.5:n.210-15A>C
ENST00000399796.6:c.210-15A>C	ENSP00000382694.2:n.210-15A>C
ENST00000399798.6:c.144-15A>C	ENSP00000382696.2:n.144-15A>C
ENST00000413576.1:c.213-15A>C	ENSP00000398932.1:n.213-15A>C
ENST00000478963.5:n.323-15A>C
ENST00000481365.5:n.179-15A>C
ENST00000484653.5:n.179-15A>C