Canonical Allele Identifier: CA3343044
Gene: ARRDC3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.91378745G>A
GRCh37 chr5:g.90674562G>A
Revel Score:
ENST00000265138 (MANE Select) 0.059
gnomAD v2:
5:90674562 G / A
gnomAD v3:
5:91378745 G / A
gnomAD v4:
chr5-91378745-G-A
Joint Max Group AF 0.00077954 (AFR)
Genomes Max Group AF 0.00074932 (AFR)
Exomes Max Group AF 0.00066177 (AFR)
ClinVar RCV:
RCV004222646
ClinVar Variation:
2387612
dbSNP:
147788981
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.91378745G>A , CM000667.2:g.91378745G>A GRCh38
NC_000005.9:g.90674562G>A , CM000667.1:g.90674562G>A GRCh37
NC_000005.8:g.90710318G>A NCBI36
NG_051241.1:g.9629C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265138.4:c.311C>T MANE Select ENSP00000265138.3:p.Thr104Ile
ENST00000265138.3:c.311C>T ENSP00000265138.3:p.Thr104Ile
ENST00000503192.5:n.301C>T
ENST00000507075.1:n.94C>T
ENST00000508948.5:n.272C>T
ENST00000514284.5:n.198C>T
NM_020801.2:c.311C>T NP_065852.1:p.Thr104Ile
XR_948281.1:n.578C>T
NM_001329670.1:c.-350C>T NP_001316599.1:n.-350C>T
NM_001329671.1:c.-202C>T NP_001316600.1:n.-202C>T
NM_001329672.1:c.-202C>T NP_001316601.1:n.-202C>T
NM_020801.3:c.311C>T NP_065852.1:p.Thr104Ile
NR_138071.1:n.881C>T
NR_138072.1:n.592C>T
XR_002956165.1:n.551C>T
NM_020801.4:c.311C>T MANE Select NP_065852.1:p.Thr104Ile
NM_001329670.2:c.-350C>T NP_001316599.1:n.-350C>T
NM_001329671.2:c.-202C>T NP_001316600.1:n.-202C>T
NM_001329672.2:c.-202C>T NP_001316601.1:n.-202C>T
NR_138071.2:n.681C>T
NR_138072.2:n.536C>T
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