Canonical Allele Identifier: CA2664359603
Gene: JAGN1 HGNC NCBI

Linked Data

gnomAD v4: 3-9890829-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890829G>A , CM000665.2:g.9890829G>A GRCh38
NC_000003.11:g.9932513G>A , CM000665.1:g.9932513G>A GRCh37
NC_000003.10:g.9907513G>A NCBI36
NG_041779.1:g.5243G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.89+18G>A ENSP00000497724.1:n.89+18G>A
ENST00000647897.1:c.89+18G>A MANE Select ENSP00000496942.1:n.89+18G>A
ENST00000307768.4:c.89+18G>A ENSP00000306106.4:n.89+18G>A
ENST00000489724.1:n.179+18G>A
ENST00000616966.2:c.89+18G>A ENSP00000481606.1:n.89+18G>A
NM_032492.3:c.89+18G>A NP_115881.3:n.89+18G>A
NM_001363890.1:c.-180+18G>A NP_001350819.1:n.-180+18G>A
NM_032492.4:c.89+18G>A MANE Select NP_115881.3:n.89+18G>A
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