Canonical Allele Identifier: CA638287475

Gene: ATP6V1E1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17594620C>A , CM000684.2:g.17594620C>A	GRCh38
NC_000022.10:g.18077386C>A , CM000684.1:g.18077386C>A	GRCh37
NC_000022.9:g.16457386C>A	NCBI36
NG_009214.1:g.39203G>T
NG_009214.2:g.39203G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001696.4:c.531-4G>T MANE Select	NP_001687.1:n.531-4G>T
ENST00000253413.10:c.531-4G>T MANE Select	ENSP00000253413.5:n.531-4G>T
NM_001039366.1:c.465-4G>T	NP_001034455.1:n.465-4G>T
NM_001039367.1:c.441-4G>T	NP_001034456.1:n.441-4G>T
NM_001696.3:c.531-4G>T	NP_001687.1:n.531-4G>T
ENST00000253413.9:c.531-4G>T	ENSP00000253413.5:n.531-4G>T
ENST00000399796.6:c.441-4G>T	ENSP00000382694.2:n.441-4G>T
ENST00000399798.6:c.465-4G>T	ENSP00000382696.2:n.465-4G>T
ENST00000413576.1:c.534-4G>T	ENSP00000398932.1:n.534-4G>T
ENST00000473248.1:n.673G>T