Canonical Allele Identifier: CA351712196
Gene: JAGN1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.86T>C ENSP00000497724.1:p.Met29Thr
ENST00000647897.1:c.86T>C MANE Select ENSP00000496942.1:p.Met29Thr
ENST00000307768.4:c.86T>C ENSP00000306106.4:p.Met29Thr
ENST00000489724.1:n.176T>C
ENST00000616966.2:c.86T>C ENSP00000481606.1:p.Met29Thr
NM_032492.3:c.86T>C NP_115881.3:p.Met29Thr
NM_001363890.1:c.-183T>C NP_001350819.1:n.-183T>C
NM_032492.4:c.86T>C MANE Select NP_115881.3:p.Met29Thr