Canonical Allele Identifier: CA351712220

Gene: JAGN1

Linked Data

• gnomAD v4: 3-9890810-A-G
• MyVariant Identifiers: chr3:g.9932494A>G (hg19) ; chr3:g.9890810A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9890810A>G , CM000665.2:g.9890810A>G	GRCh38
NC_000003.11:g.9932494A>G , CM000665.1:g.9932494A>G	GRCh37
NC_000003.10:g.9907494A>G	NCBI36
NG_041779.1:g.5224A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489724.2:c.88A>G	ENSP00000497724.1:p.Arg30Gly
ENST00000647897.1:c.88A>G MANE Select	ENSP00000496942.1:p.Ser30Gly
ENST00000307768.4:c.88A>G	ENSP00000306106.4:p.Ser30Gly
ENST00000489724.1:n.178A>G
ENST00000616966.2:c.88A>G	ENSP00000481606.1:p.Ser30Gly
NM_032492.3:c.88A>G	NP_115881.3:p.Ser30Gly
NM_001363890.1:c.-181A>G	NP_001350819.1:n.-181A>G
NM_032492.4:c.88A>G MANE Select	NP_115881.3:p.Ser30Gly