Canonical Allele Identifier: CA2655150279

Gene: ATP6V1E1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17613193C>T , CM000684.2:g.17613193C>T	GRCh38
NC_000022.10:g.18095959C>T , CM000684.1:g.18095959C>T	GRCh37
NC_000022.9:g.16475959C>T	NCBI36
NG_009214.1:g.20630G>A
NG_009214.2:g.20630G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001696.4:c.209+18G>A MANE Select	NP_001687.1:n.209+18G>A
ENST00000253413.10:c.209+18G>A MANE Select	ENSP00000253413.5:n.209+18G>A
NM_001039366.1:c.143+18G>A	NP_001034455.1:n.143+18G>A
NM_001039367.1:c.209+18G>A	NP_001034456.1:n.209+18G>A
NM_001696.3:c.209+18G>A	NP_001687.1:n.209+18G>A
ENST00000253413.9:c.209+18G>A	ENSP00000253413.5:n.209+18G>A
ENST00000399796.6:c.209+18G>A	ENSP00000382694.2:n.209+18G>A
ENST00000399798.6:c.143+18G>A	ENSP00000382696.2:n.143+18G>A
ENST00000413576.1:c.212+18G>A	ENSP00000398932.1:n.212+18G>A
ENST00000460085.1:n.341G>A
ENST00000478963.5:n.322+18G>A
ENST00000481365.5:n.178+18G>A
ENST00000484653.5:n.178+18G>A