Canonical Allele Identifier: CA1344965516
Community Standard Title: NM_032492.4(JAGN1):c.40G= (p.Gly14=)
Gene: JAGN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890762G= , CM000665.2:g.9890762G= GRCh38
NC_000003.11:g.9932446G= , CM000665.1:g.9932446G= GRCh37
NC_000003.10:g.9907446G= NCBI36
NG_041779.1:g.5176G=

Transcript Alleles

HGVS Amino-acid Change
NM_032492.4:c.40G= MANE Select NP_115881.3:p.Gly14=
ENST00000647897.1:c.40G= MANE Select ENSP00000496942.1:p.Gly14=
NM_001363890.1:c.-229G= NP_001350819.1:n.-229G=
NM_032492.3:c.40G= NP_115881.3:p.Gly14=
ENST00000307768.4:c.40G= ENSP00000306106.4:p.Gly14=
ENST00000489724.1:n.130G=
ENST00000489724.2:c.40G= ENSP00000497724.1:p.Gly14=
ENST00000616966.2:c.40G= ENSP00000481606.1:p.Gly14=