Canonical Allele Identifier: CA351712135
Gene: JAGN1 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.77A>C ENSP00000497724.1:p.His26Pro
ENST00000647897.1:c.77A>C MANE Select ENSP00000496942.1:p.His26Pro
ENST00000307768.4:c.77A>C ENSP00000306106.4:p.His26Pro
ENST00000489724.1:n.167A>C
ENST00000616966.2:c.77A>C ENSP00000481606.1:p.His26Pro
NM_032492.3:c.77A>C NP_115881.3:p.His26Pro
NM_001363890.1:c.-192A>C NP_001350819.1:n.-192A>C
NM_032492.4:c.77A>C MANE Select NP_115881.3:p.His26Pro
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