Canonical Allele Identifier: CA1344965576
Gene: JAGN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890850C= , CM000665.2:g.9890850C= GRCh38
NC_000003.11:g.9932534C= , CM000665.1:g.9932534C= GRCh37
NC_000003.10:g.9907534C= NCBI36
NG_041779.1:g.5264C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.89+39C= ENSP00000497724.1:n.89+39C=
ENST00000647897.1:c.89+39C= MANE Select ENSP00000496942.1:n.89+39C=
ENST00000307768.4:c.89+39C= ENSP00000306106.4:n.89+39C=
ENST00000489724.1:n.179+39C=
ENST00000616966.2:c.89+39C= ENSP00000481606.1:n.89+39C=
NM_032492.3:c.89+39C= NP_115881.3:n.89+39C=
NM_001363890.1:c.-180+39C= NP_001350819.1:n.-180+39C=
NM_032492.4:c.89+39C= MANE Select NP_115881.3:n.89+39C=