Canonical Allele Identifier: CA2573157696

Gene: ATP6V1E1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17613208T>C , CM000684.2:g.17613208T>C	GRCh38
NC_000022.10:g.18095974T>C , CM000684.1:g.18095974T>C	GRCh37
NC_000022.9:g.16475974T>C	NCBI36
NG_009214.1:g.20615A>G
NG_009214.2:g.20615A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001696.4:c.209+3A>G MANE Select	NP_001687.1:n.209+3A>G
ENST00000253413.10:c.209+3A>G MANE Select	ENSP00000253413.5:n.209+3A>G
NM_001039366.1:c.143+3A>G	NP_001034455.1:n.143+3A>G
NM_001039367.1:c.209+3A>G	NP_001034456.1:n.209+3A>G
NM_001696.3:c.209+3A>G	NP_001687.1:n.209+3A>G
ENST00000253413.9:c.209+3A>G	ENSP00000253413.5:n.209+3A>G
ENST00000399796.6:c.209+3A>G	ENSP00000382694.2:n.209+3A>G
ENST00000399798.6:c.143+3A>G	ENSP00000382696.2:n.143+3A>G
ENST00000413576.1:c.212+3A>G	ENSP00000398932.1:n.212+3A>G
ENST00000460085.1:n.326A>G
ENST00000478963.5:n.322+3A>G
ENST00000481365.5:n.178+3A>G
ENST00000484653.5:n.178+3A>G