Canonical Allele Identifier: CA351712137
Gene: JAGN1 HGNC NCBI

Linked Data

dbSNP Id: rs1559259122
gnomAD v4: 3-9890799-A-G
MyVariant Identifiers: chr3:g.9932483A>G (hg19) chr3:g.9890799A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890799A>G , CM000665.2:g.9890799A>G GRCh38
NC_000003.11:g.9932483A>G , CM000665.1:g.9932483A>G GRCh37
NC_000003.10:g.9907483A>G NCBI36
NG_041779.1:g.5213A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.77A>G ENSP00000497724.1:p.His26Arg
ENST00000647897.1:c.77A>G MANE Select ENSP00000496942.1:p.His26Arg
ENST00000307768.4:c.77A>G ENSP00000306106.4:p.His26Arg
ENST00000489724.1:n.167A>G
ENST00000616966.2:c.77A>G ENSP00000481606.1:p.His26Arg
NM_032492.3:c.77A>G NP_115881.3:p.His26Arg
NM_001363890.1:c.-192A>G NP_001350819.1:n.-192A>G
NM_032492.4:c.77A>G MANE Select NP_115881.3:p.His26Arg
Search 100 bp 5'
Search 100 bp 3'