Canonical Allele Identifier: CA351712254
Gene: JAGN1 HGNC NCBI

Linked Data

gnomAD v4: 3-9890811-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890811G>T , CM000665.2:g.9890811G>T GRCh38
NC_000003.11:g.9932495G>T , CM000665.1:g.9932495G>T GRCh37
NC_000003.10:g.9907495G>T NCBI36
NG_041779.1:g.5225G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.89G>T ENSP00000497724.1:p.Arg30Met
ENST00000647897.1:c.89G>T MANE Select ENSP00000496942.1:p.Ser30Ile
ENST00000307768.4:c.89G>T ENSP00000306106.4:p.Ser30Ile
ENST00000489724.1:n.179G>T
ENST00000616966.2:c.89G>T ENSP00000481606.1:p.Ser30Ile
NM_032492.3:c.89G>T NP_115881.3:p.Ser30Ile
NM_001363890.1:c.-180G>T NP_001350819.1:n.-180G>T
NM_032492.4:c.89G>T MANE Select NP_115881.3:p.Ser30Ile