Canonical Allele Identifier: CA351712081
Gene: JAGN1 HGNC NCBI

Linked Data

gnomAD v4: 3-9890789-G-A
MyVariant Identifiers: chr3:g.9932473G>A (hg19) chr3:g.9890789G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890789G>A , CM000665.2:g.9890789G>A GRCh38
NC_000003.11:g.9932473G>A , CM000665.1:g.9932473G>A GRCh37
NC_000003.10:g.9907473G>A NCBI36
NG_041779.1:g.5203G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000489724.2:c.67G>A ENSP00000497724.1:p.Val23Ile
ENST00000647897.1:c.67G>A MANE Select ENSP00000496942.1:p.Val23Ile
ENST00000307768.4:c.67G>A ENSP00000306106.4:p.Val23Ile
ENST00000489724.1:n.157G>A
ENST00000616966.2:c.67G>A ENSP00000481606.1:p.Val23Ile
NM_032492.3:c.67G>A NP_115881.3:p.Val23Ile
NM_001363890.1:c.-202G>A NP_001350819.1:n.-202G>A
NM_032492.4:c.67G>A MANE Select NP_115881.3:p.Val23Ile
Search 100 bp 5'
Search 100 bp 3'