Canonical Allele Identifier: CA351713832

Gene: JAGN1

Linked Data

• dbSNP Id: rs201225696
• gnomAD v2: 3-9934599-T-G
• gnomAD v4: 3-9892915-T-G
• MyVariant Identifiers: chr3:g.9934599T>G (hg19) ; chr3:g.9892915T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9892915T>G , CM000665.2:g.9892915T>G	GRCh38
NC_000003.11:g.9934599T>G , CM000665.1:g.9934599T>G	GRCh37
NC_000003.10:g.9909599T>G	NCBI36
NG_041779.1:g.7329T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489724.2:c.*43T>G	ENSP00000497724.1:n.*43T>G
ENST00000647897.1:c.90T>G MANE Select	ENSP00000496942.1:p.Ser30Arg
ENST00000307768.4:c.90T>G	ENSP00000306106.4:p.Ser30Arg
ENST00000489724.1:n.286T>G
ENST00000616966.2:c.90T>G	ENSP00000481606.1:p.Ser30Arg
NM_032492.3:c.90T>G	NP_115881.3:p.Ser30Arg
NM_001363890.1:c.-73T>G	NP_001350819.1:n.-73T>G
NM_032492.4:c.90T>G MANE Select	NP_115881.3:p.Ser30Arg