Canonical Allele Identifier: CA2245800
Gene: JAGN1 HGNC NCBI

Linked Data

dbSNP Id: rs775648445
ExAC: 3:9932498 A / G
gnomAD v2: 3-9932498-A-G
gnomAD v4: 3-9890814-A-G
MyVariant Identifiers: chr3:g.9932498A>G (hg19) chr3:g.9890814A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890814A>G , CM000665.2:g.9890814A>G GRCh38
NC_000003.11:g.9932498A>G , CM000665.1:g.9932498A>G GRCh37
NC_000003.10:g.9907498A>G NCBI36
NG_041779.1:g.5228A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.89+3A>G ENSP00000497724.1:n.89+3A>G
ENST00000647897.1:c.89+3A>G MANE Select ENSP00000496942.1:n.89+3A>G
ENST00000307768.4:c.89+3A>G ENSP00000306106.4:n.89+3A>G
ENST00000489724.1:n.179+3A>G
ENST00000616966.2:c.89+3A>G ENSP00000481606.1:n.89+3A>G
NM_032492.3:c.89+3A>G NP_115881.3:n.89+3A>G
NM_001363890.1:c.-180+3A>G NP_001350819.1:n.-180+3A>G
NM_032492.4:c.89+3A>G MANE Select NP_115881.3:n.89+3A>G
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