Canonical Allele Identifier: CA2245803
Gene: JAGN1 HGNC NCBI

Linked Data

dbSNP Id: rs772821177
ExAC: 3:9932501 A / C
gnomAD v2: 3-9932501-A-C
gnomAD v4: 3-9890817-A-C
MyVariant Identifiers: chr3:g.9932501A>C (hg19) chr3:g.9890817A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890817A>C , CM000665.2:g.9890817A>C GRCh38
NC_000003.11:g.9932501A>C , CM000665.1:g.9932501A>C GRCh37
NC_000003.10:g.9907501A>C NCBI36
NG_041779.1:g.5231A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.89+6A>C ENSP00000497724.1:n.89+6A>C
ENST00000647897.1:c.89+6A>C MANE Select ENSP00000496942.1:n.89+6A>C
ENST00000307768.4:c.89+6A>C ENSP00000306106.4:n.89+6A>C
ENST00000489724.1:n.179+6A>C
ENST00000616966.2:c.89+6A>C ENSP00000481606.1:n.89+6A>C
NM_032492.3:c.89+6A>C NP_115881.3:n.89+6A>C
NM_001363890.1:c.-180+6A>C NP_001350819.1:n.-180+6A>C
NM_032492.4:c.89+6A>C MANE Select NP_115881.3:n.89+6A>C
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