Canonical Allele Identifier: CA351712054
Gene: JAGN1 HGNC NCBI

Linked Data

gnomAD v4: 3-9890785-G-C
MyVariant Identifiers: chr3:g.9932469G>C (hg19) chr3:g.9890785G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890785G>C , CM000665.2:g.9890785G>C GRCh38
NC_000003.11:g.9932469G>C , CM000665.1:g.9932469G>C GRCh37
NC_000003.10:g.9907469G>C NCBI36
NG_041779.1:g.5199G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.63G>C ENSP00000497724.1:p.Glu21Asp
ENST00000647897.1:c.63G>C MANE Select ENSP00000496942.1:p.Glu21Asp
ENST00000307768.4:c.63G>C ENSP00000306106.4:p.Glu21Asp
ENST00000489724.1:n.153G>C
ENST00000616966.2:c.63G>C ENSP00000481606.1:p.Glu21Asp
NM_032492.3:c.63G>C NP_115881.3:p.Glu21Asp
NM_001363890.1:c.-206G>C NP_001350819.1:n.-206G>C
NM_032492.4:c.63G>C MANE Select NP_115881.3:p.Glu21Asp
Search 100 bp 5'
Search 100 bp 3'