Canonical Allele Identifier: CA1344965564
Gene: JAGN1 HGNC NCBI

Linked Data

dbSNP Id: rs1192931498

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890834C>G , CM000665.2:g.9890834C>G GRCh38
NC_000003.11:g.9932518C>G , CM000665.1:g.9932518C>G GRCh37
NC_000003.10:g.9907518C>G NCBI36
NG_041779.1:g.5248C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.89+23C>G ENSP00000497724.1:n.89+23C>G
ENST00000647897.1:c.89+23C>G MANE Select ENSP00000496942.1:n.89+23C>G
ENST00000307768.4:c.89+23C>G ENSP00000306106.4:n.89+23C>G
ENST00000489724.1:n.179+23C>G
ENST00000616966.2:c.89+23C>G ENSP00000481606.1:n.89+23C>G
NM_032492.3:c.89+23C>G NP_115881.3:n.89+23C>G
NM_001363890.1:c.-180+23C>G NP_001350819.1:n.-180+23C>G
NM_032492.4:c.89+23C>G MANE Select NP_115881.3:n.89+23C>G