Canonical Allele Identifier: CA351712216
Gene: JAGN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890810A>C , CM000665.2:g.9890810A>C GRCh38
NC_000003.11:g.9932494A>C , CM000665.1:g.9932494A>C GRCh37
NC_000003.10:g.9907494A>C NCBI36
NG_041779.1:g.5224A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.88A>C ENSP00000497724.1:p.Arg30=
ENST00000647897.1:c.88A>C MANE Select ENSP00000496942.1:p.Ser30Arg
ENST00000307768.4:c.88A>C ENSP00000306106.4:p.Ser30Arg
ENST00000489724.1:n.178A>C
ENST00000616966.2:c.88A>C ENSP00000481606.1:p.Ser30Arg
NM_032492.3:c.88A>C NP_115881.3:p.Ser30Arg
NM_001363890.1:c.-181A>C NP_001350819.1:n.-181A>C
NM_032492.4:c.88A>C MANE Select NP_115881.3:p.Ser30Arg