Canonical Allele Identifier: CA2577502127

Gene: JAGN1

Linked Data

• gnomAD v4: 3-9890832-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9890832C>A , CM000665.2:g.9890832C>A	GRCh38
NC_000003.11:g.9932516C>A , CM000665.1:g.9932516C>A	GRCh37
NC_000003.10:g.9907516C>A	NCBI36
NG_041779.1:g.5246C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489724.2:c.89+21C>A	ENSP00000497724.1:n.89+21C>A
ENST00000647897.1:c.89+21C>A MANE Select	ENSP00000496942.1:n.89+21C>A
ENST00000307768.4:c.89+21C>A	ENSP00000306106.4:n.89+21C>A
ENST00000489724.1:n.179+21C>A
ENST00000616966.2:c.89+21C>A	ENSP00000481606.1:n.89+21C>A
NM_032492.3:c.89+21C>A	NP_115881.3:n.89+21C>A
NM_001363890.1:c.-180+21C>A	NP_001350819.1:n.-180+21C>A
NM_032492.4:c.89+21C>A MANE Select	NP_115881.3:n.89+21C>A