Canonical Allele Identifier: CA2664359610
Gene: JAGN1 HGNC NCBI

Linked Data

gnomAD v4: 3-9890845-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890845T>C , CM000665.2:g.9890845T>C GRCh38
NC_000003.11:g.9932529T>C , CM000665.1:g.9932529T>C GRCh37
NC_000003.10:g.9907529T>C NCBI36
NG_041779.1:g.5259T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.89+34T>C ENSP00000497724.1:n.89+34T>C
ENST00000647897.1:c.89+34T>C MANE Select ENSP00000496942.1:n.89+34T>C
ENST00000307768.4:c.89+34T>C ENSP00000306106.4:n.89+34T>C
ENST00000489724.1:n.179+34T>C
ENST00000616966.2:c.89+34T>C ENSP00000481606.1:n.89+34T>C
NM_032492.3:c.89+34T>C NP_115881.3:n.89+34T>C
NM_001363890.1:c.-180+34T>C NP_001350819.1:n.-180+34T>C
NM_032492.4:c.89+34T>C MANE Select NP_115881.3:n.89+34T>C