Canonical Allele Identifier: CA1344965528
Community Standard Title: NM_032492.4(JAGN1):c.63G= (p.Glu21=)
Gene: JAGN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890785G= , CM000665.2:g.9890785G= GRCh38
NC_000003.11:g.9932469G= , CM000665.1:g.9932469G= GRCh37
NC_000003.10:g.9907469G= NCBI36
NG_041779.1:g.5199G=

Transcript Alleles

HGVS Amino-acid Change
NM_032492.4:c.63G= MANE Select NP_115881.3:p.Glu21=
ENST00000647897.1:c.63G= MANE Select ENSP00000496942.1:p.Glu21=
NM_001363890.1:c.-206G= NP_001350819.1:n.-206G=
NM_032492.3:c.63G= NP_115881.3:p.Glu21=
ENST00000307768.4:c.63G= ENSP00000306106.4:p.Glu21=
ENST00000489724.1:n.153G=
ENST00000489724.2:c.63G= ENSP00000497724.1:p.Glu21=
ENST00000616966.2:c.63G= ENSP00000481606.1:p.Glu21=