Canonical Allele Identifier: CA351712112
Gene: JAGN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890796T>A , CM000665.2:g.9890796T>A GRCh38
NC_000003.11:g.9932480T>A , CM000665.1:g.9932480T>A GRCh37
NC_000003.10:g.9907480T>A NCBI36
NG_041779.1:g.5210T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000489724.2:c.74T>A ENSP00000497724.1:p.Met25Lys
ENST00000647897.1:c.74T>A MANE Select ENSP00000496942.1:p.Met25Lys
ENST00000307768.4:c.74T>A ENSP00000306106.4:p.Met25Lys
ENST00000489724.1:n.164T>A
ENST00000616966.2:c.74T>A ENSP00000481606.1:p.Met25Lys
NM_032492.3:c.74T>A NP_115881.3:p.Met25Lys
NM_001363890.1:c.-195T>A NP_001350819.1:n.-195T>A
NM_032492.4:c.74T>A MANE Select NP_115881.3:p.Met25Lys