Canonical Allele Identifier: CA4505155
Gene: ATP6V0A4 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.138762983G>C
GRCh37 chr7:g.138447728G>C
Revel Score:
ENST00000310018 (MANE Select) 0.164
ENST00000393054 0.164
ENST00000353492 0.164
gnomAD v2:
7:138447728 G / C
gnomAD v3:
7:138762983 G / C
gnomAD v4:
chr7-138762983-G-C
Joint Max Group AF 0.00016598 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.00017201 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138762983G>C , CM000669.2:g.138762983G>C GRCh38
NC_000007.13:g.138447728G>C , CM000669.1:g.138447728G>C GRCh37
NC_000007.12:g.138098268G>C NCBI36
NG_008145.1:g.40214C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000310018.7:c.334C>G MANE Select ENSP00000308122.2:p.Gln112Glu
ENST00000645515.1:c.334C>G ENSP00000496421.1:p.Gln112Glu
ENST00000310018.6:c.334C>G ENSP00000308122.2:p.Gln112Glu
ENST00000353492.4:c.334C>G ENSP00000253856.6:p.Gln112Glu
ENST00000393054.5:c.334C>G ENSP00000376774.1:p.Gln112Glu
ENST00000483139.1:n.583C>G
NM_020632.2:c.334C>G NP_065683.2:p.Gln112Glu
NM_130840.2:c.334C>G NP_570855.2:p.Gln112Glu
NM_130841.2:c.334C>G NP_570856.2:p.Gln112Glu
XM_005250393.1:c.334C>G XP_005250450.1:p.Gln112Glu
XM_005250394.2:c.334C>G XP_005250451.1:p.Gln112Glu
XM_005250394.3:c.334C>G XP_005250451.1:p.Gln112Glu
NM_020632.3:c.334C>G MANE Select NP_065683.2:p.Gln112Glu
NM_130840.3:c.334C>G NP_570855.2:p.Gln112Glu
NM_130841.3:c.334C>G NP_570856.2:p.Gln112Glu
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