Canonical Allele Identifier: CA351712194
Gene: JAGN1 HGNC NCBI

Linked Data

gnomAD v4: 3-9890808-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890808T>A , CM000665.2:g.9890808T>A GRCh38
NC_000003.11:g.9932492T>A , CM000665.1:g.9932492T>A GRCh37
NC_000003.10:g.9907492T>A NCBI36
NG_041779.1:g.5222T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.86T>A ENSP00000497724.1:p.Met29Lys
ENST00000647897.1:c.86T>A MANE Select ENSP00000496942.1:p.Met29Lys
ENST00000307768.4:c.86T>A ENSP00000306106.4:p.Met29Lys
ENST00000489724.1:n.176T>A
ENST00000616966.2:c.86T>A ENSP00000481606.1:p.Met29Lys
NM_032492.3:c.86T>A NP_115881.3:p.Met29Lys
NM_001363890.1:c.-183T>A NP_001350819.1:n.-183T>A
NM_032492.4:c.86T>A MANE Select NP_115881.3:p.Met29Lys