Canonical Allele Identifier: CA321184371

Gene: ATP6V1E1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17600401C>T , CM000684.2:g.17600401C>T	GRCh38
NC_000022.10:g.18083167C>T , CM000684.1:g.18083167C>T	GRCh37
NC_000022.9:g.16463167C>T	NCBI36
NG_009214.1:g.33422G>A
NG_009214.2:g.33422G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001696.4:c.367-306G>A MANE Select	NP_001687.1:n.367-306G>A
ENST00000253413.10:c.367-306G>A MANE Select	ENSP00000253413.5:n.367-306G>A
NM_001039366.1:c.301-306G>A	NP_001034455.1:n.301-306G>A
NM_001039367.1:c.277-306G>A	NP_001034456.1:n.277-306G>A
NM_001696.3:c.367-306G>A	NP_001687.1:n.367-306G>A
ENST00000253413.9:c.367-306G>A	ENSP00000253413.5:n.367-306G>A
ENST00000399796.6:c.277-306G>A	ENSP00000382694.2:n.277-306G>A
ENST00000399798.6:c.301-306G>A	ENSP00000382696.2:n.301-306G>A
ENST00000413576.1:c.370-306G>A	ENSP00000398932.1:n.370-306G>A
ENST00000481365.5:n.336-306G>A