Canonical Allele Identifier: CA1344965562

Gene: JAGN1

Linked Data

• dbSNP Id: rs2082557562
• gnomAD v4: 3-9890833-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9890833A>G , CM000665.2:g.9890833A>G	GRCh38
NC_000003.11:g.9932517A>G , CM000665.1:g.9932517A>G	GRCh37
NC_000003.10:g.9907517A>G	NCBI36
NG_041779.1:g.5247A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489724.2:c.89+22A>G	ENSP00000497724.1:n.89+22A>G
ENST00000647897.1:c.89+22A>G MANE Select	ENSP00000496942.1:n.89+22A>G
ENST00000307768.4:c.89+22A>G	ENSP00000306106.4:n.89+22A>G
ENST00000489724.1:n.179+22A>G
ENST00000616966.2:c.89+22A>G	ENSP00000481606.1:n.89+22A>G
NM_032492.3:c.89+22A>G	NP_115881.3:n.89+22A>G
NM_001363890.1:c.-180+22A>G	NP_001350819.1:n.-180+22A>G
NM_032492.4:c.89+22A>G MANE Select	NP_115881.3:n.89+22A>G