Canonical Allele Identifier: CA356482510
Gene: ADGRA3 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.22438268T>G
GRCh37 chr4:g.22439891T>G
Revel Score:
ENST00000334304 (MANE Select) 0.294
ENST00000508133 0.294
ENST00000502482 0.294
ENST00000514129 0.294
gnomAD v2:
4:22439891 T / G
gnomAD v4:
chr4-22438268-T-G
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar Allele:
990080
ClinVar RCV:
RCV001297284
ClinVar Variation:
1001055
dbSNP:
1307282344
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.22438268T>G , CM000666.2:g.22438268T>G GRCh38
NC_000004.11:g.22439891T>G , CM000666.1:g.22439891T>G GRCh37
NC_000004.10:g.22048989T>G NCBI36
NG_032963.1:g.82787A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000334304.10:c.1073A>C MANE Select ENSP00000334952.5:p.Lys358Thr
ENST00000282943.9:n.698A>C
ENST00000334304.9:c.1073A>C ENSP00000334952.5:p.Lys358Thr
ENST00000502482.1:c.1073A>C ENSP00000421006.1:p.Lys358Thr
ENST00000508133.5:c.395A>C ENSP00000422606.1:p.Lys132Thr
ENST00000514129.5:c.281A>C ENSP00000425223.1:p.Lys94Thr
NM_145290.3:c.1073A>C NP_660333.2:p.Lys358Thr
XM_005248137.3:c.1073A>C XP_005248194.1:p.Lys358Thr
XM_011513810.1:c.482A>C XP_011512112.1:p.Lys161Thr
XM_011513811.1:c.395A>C XP_011512113.1:p.Lys132Thr
XR_925316.1:n.1347A>C
XM_005248137.5:c.1073A>C XP_005248194.1:p.Lys358Thr
XM_011513811.2:c.395A>C XP_011512113.1:p.Lys132Thr
XR_001741153.1:n.1347A>C
NM_145290.4:c.1073A>C MANE Select NP_660333.2:p.Lys358Thr
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