Canonical Allele Identifier: CA354018558
Gene: ATP6V1A HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.113795101C>A
GRCh37 chr3:g.113513948C>A
Revel Score:
ENST00000545842 0.899
ENST00000273398 (MANE Select) 0.899
ENST00000538620 0.899
ClinVar RCV:
RCV000708561
ClinVar Variation:
584428
dbSNP:
1559759089
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.113795101C>A , CM000665.2:g.113795101C>A GRCh38
NC_000003.11:g.113513948C>A , CM000665.1:g.113513948C>A GRCh37
NC_000003.10:g.114996638C>A NCBI36
NG_047012.1:g.53083C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496747.6:c.1024C>A ENSP00000417545.2:p.Pro342Thr
ENST00000703904.2:c.1123C>A ENSP00000515542.1:p.Pro375Thr
ENST00000703908.1:c.565-8482C>A ENSP00000515545.1:n.565-8482C>A
ENST00000703909.1:c.1123C>A ENSP00000515546.1:p.Pro375Thr
ENST00000703910.1:c.1123C>A ENSP00000515547.1:p.Pro375Thr
ENST00000703911.1:c.1123C>A ENSP00000515548.1:p.Pro375Thr
ENST00000273398.8:c.1123C>A MANE Select ENSP00000273398.3:p.Pro375Thr
ENST00000273398.7:c.1123C>A ENSP00000273398.3:p.Pro375Thr
ENST00000470455.5:c.*1025C>A ENSP00000420146.1:n.*1025C>A
NM_001690.3:c.1123C>A NP_001681.2:p.Pro375Thr
NM_001690.4:c.1123C>A MANE Select NP_001681.2:p.Pro375Thr
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