Canonical Allele Identifier: CA10090265

Gene: ATP6V1E1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17628679G>A , CM000684.2:g.17628679G>A	GRCh38
NC_000022.10:g.18111445G>A , CM000684.1:g.18111445G>A	GRCh37
NC_000022.9:g.16491445G>A	NCBI36
NG_009214.1:g.5144C>T
NG_009214.2:g.5144C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001696.4:c.-44C>T MANE Select	NP_001687.1:n.-44C>T
ENST00000253413.10:c.-44C>T MANE Select	ENSP00000253413.5:n.-44C>T
NM_001039366.1:c.-44C>T	NP_001034455.1:n.-44C>T
NM_001039367.1:c.-44C>T	NP_001034456.1:n.-44C>T
NM_001696.3:c.-44C>T	NP_001687.1:n.-44C>T
ENST00000253413.9:c.-44C>T	ENSP00000253413.5:n.-44C>T
ENST00000399796.6:c.-44C>T	ENSP00000382694.2:n.-44C>T
ENST00000399798.6:c.-44C>T	ENSP00000382696.2:n.-44C>T
ENST00000413576.1:c.-135C>T	ENSP00000398932.1:n.-135C>T
ENST00000460085.1:n.71C>T
ENST00000478963.5:n.70C>T