Canonical Allele Identifier: CA2577638915

Gene: ATP6V1E1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17600115C>A , CM000684.2:g.17600115C>A	GRCh38
NC_000022.10:g.18082881C>A , CM000684.1:g.18082881C>A	GRCh37
NC_000022.9:g.16462881C>A	NCBI36
NG_009214.1:g.33708G>T
NG_009214.2:g.33708G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001696.4:c.367-20G>T MANE Select	NP_001687.1:n.367-20G>T
ENST00000253413.10:c.367-20G>T MANE Select	ENSP00000253413.5:n.367-20G>T
NM_001039366.1:c.301-20G>T	NP_001034455.1:n.301-20G>T
NM_001039367.1:c.277-20G>T	NP_001034456.1:n.277-20G>T
NM_001696.3:c.367-20G>T	NP_001687.1:n.367-20G>T
ENST00000253413.9:c.367-20G>T	ENSP00000253413.5:n.367-20G>T
ENST00000399796.6:c.277-20G>T	ENSP00000382694.2:n.277-20G>T
ENST00000399798.6:c.301-20G>T	ENSP00000382696.2:n.301-20G>T
ENST00000413576.1:c.370-20G>T	ENSP00000398932.1:n.370-20G>T
ENST00000481365.5:n.336-20G>T