Canonical Allele Identifier: CA14919440

Gene: ATP6V1E1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17599836A>G , CM000684.2:g.17599836A>G	GRCh38
NC_000022.10:g.18082602A>G , CM000684.1:g.18082602A>G	GRCh37
NC_000022.9:g.16462602A>G	NCBI36
NG_009214.1:g.33987T>C
NG_009214.2:g.33987T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001696.4:c.435+191T>C MANE Select	NP_001687.1:n.435+191T>C
ENST00000253413.10:c.435+191T>C MANE Select	ENSP00000253413.5:n.435+191T>C
NM_001039366.1:c.369+191T>C	NP_001034455.1:n.369+191T>C
NM_001039367.1:c.345+191T>C	NP_001034456.1:n.345+191T>C
NM_001696.3:c.435+191T>C	NP_001687.1:n.435+191T>C
ENST00000253413.9:c.435+191T>C	ENSP00000253413.5:n.435+191T>C
ENST00000399796.6:c.345+191T>C	ENSP00000382694.2:n.345+191T>C
ENST00000399798.6:c.369+191T>C	ENSP00000382696.2:n.369+191T>C
ENST00000413576.1:c.438+191T>C	ENSP00000398932.1:n.438+191T>C
ENST00000481365.5:n.404+191T>C