Allele Registry

Canonical Allele Identifier: CA15400094

Gene: ATP6V0E1 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr5:g.172985671T>C

GRCh37 chr5:g.172412674T>C

Linked Data - Sequence & Population

gnomAD v2:

5:172412674 T / C

gnomAD v3:

5:172985671 T / C

gnomAD v4:

chr5-172985671-T-C

Joint Max Group AF 0.09849906 (SAS)

Genomes Max Group AF 0.09849906 (SAS)

Linked Data - NCBI & NCI

dbSNP:

12654739

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.172985671T>C , CM000667.2:g.172985671T>C	GRCh38
NC_000005.9:g.172412674T>C , CM000667.1:g.172412674T>C	GRCh37
NC_000005.8:g.172345280T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519374.6:c.104+1707T>C MANE Select	ENSP00000429690.1:n.104+1707T>C
ENST00000265093.4:c.104+1707T>C	ENSP00000265093.4:n.104+1707T>C
ENST00000517669.1:c.104+1707T>C	ENSP00000427941.1:n.104+1707T>C
ENST00000519374.5:c.104+1707T>C	ENSP00000429690.1:n.104+1707T>C
ENST00000519911.5:c.104+1707T>C	ENSP00000430896.1:n.104+1707T>C
NM_003945.3:c.104+1707T>C	NP_003936.1:n.104+1707T>C
NM_003945.4:c.104+1707T>C MANE Select	NP_003936.1:n.104+1707T>C

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