Canonical Allele Identifier: CA2245799
Gene: JAGN1 HGNC NCBI

Linked Data

dbSNP Id: rs772452427
ExAC: 3:9932489 A / G
gnomAD v2: 3-9932489-A-G
gnomAD v4: 3-9890805-A-G
MyVariant Identifiers: chr3:g.9932489A>G (hg19) chr3:g.9890805A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890805A>G , CM000665.2:g.9890805A>G GRCh38
NC_000003.11:g.9932489A>G , CM000665.1:g.9932489A>G GRCh37
NC_000003.10:g.9907489A>G NCBI36
NG_041779.1:g.5219A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.83A>G ENSP00000497724.1:p.Gln28Arg
ENST00000647897.1:c.83A>G MANE Select ENSP00000496942.1:p.Gln28Arg
ENST00000307768.4:c.83A>G ENSP00000306106.4:p.Gln28Arg
ENST00000489724.1:n.173A>G
ENST00000616966.2:c.83A>G ENSP00000481606.1:p.Gln28Arg
NM_032492.3:c.83A>G NP_115881.3:p.Gln28Arg
NM_001363890.1:c.-186A>G NP_001350819.1:n.-186A>G
NM_032492.4:c.83A>G MANE Select NP_115881.3:p.Gln28Arg
Search 100 bp 5'
Search 100 bp 3'