Canonical Allele Identifier: CA10090259

Gene: ATP6V1E1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17628670T>C , CM000684.2:g.17628670T>C	GRCh38
NC_000022.10:g.18111436T>C , CM000684.1:g.18111436T>C	GRCh37
NC_000022.9:g.16491436T>C	NCBI36
NG_009214.1:g.5153A>G
NG_009214.2:g.5153A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001696.4:c.-35A>G MANE Select	NP_001687.1:n.-35A>G
ENST00000253413.10:c.-35A>G MANE Select	ENSP00000253413.5:n.-35A>G
NM_001039366.1:c.-35A>G	NP_001034455.1:n.-35A>G
NM_001039367.1:c.-35A>G	NP_001034456.1:n.-35A>G
NM_001696.3:c.-35A>G	NP_001687.1:n.-35A>G
ENST00000253413.9:c.-35A>G	ENSP00000253413.5:n.-35A>G
ENST00000399796.6:c.-35A>G	ENSP00000382694.2:n.-35A>G
ENST00000399798.6:c.-35A>G	ENSP00000382696.2:n.-35A>G
ENST00000413576.1:c.-126A>G	ENSP00000398932.1:n.-126A>G
ENST00000460085.1:n.80A>G
ENST00000478963.5:n.79A>G