Canonical Allele Identifier: CA321178331

Gene: ATP6V1E1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17592920T>C , CM000684.2:g.17592920T>C	GRCh38
NC_000022.10:g.18075686T>C , CM000684.1:g.18075686T>C	GRCh37
NC_000022.9:g.16455686T>C	NCBI36
NG_009214.1:g.40903A>G
NG_009214.2:g.40903A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001696.4:c.619-184A>G MANE Select	NP_001687.1:n.619-184A>G
ENST00000253413.10:c.619-184A>G MANE Select	ENSP00000253413.5:n.619-184A>G
NM_001039366.1:c.553-184A>G	NP_001034455.1:n.553-184A>G
NM_001039367.1:c.529-184A>G	NP_001034456.1:n.529-184A>G
NM_001696.3:c.619-184A>G	NP_001687.1:n.619-184A>G
ENST00000253413.9:c.619-184A>G	ENSP00000253413.5:n.619-184A>G
ENST00000399796.6:c.529-184A>G	ENSP00000382694.2:n.529-184A>G
ENST00000399798.6:c.553-184A>G	ENSP00000382696.2:n.553-184A>G
ENST00000473248.1:n.765-184A>G