Canonical Allele Identifier: CA351712096

Gene: JAGN1

Linked Data

• dbSNP Id: rs1299036065
• gnomAD v2: 3-9932476-G-A
• gnomAD v4: 3-9890792-G-A
• MyVariant Identifiers: chr3:g.9932476G>A (hg19) ; chr3:g.9890792G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9890792G>A , CM000665.2:g.9890792G>A	GRCh38
NC_000003.11:g.9932476G>A , CM000665.1:g.9932476G>A	GRCh37
NC_000003.10:g.9907476G>A	NCBI36
NG_041779.1:g.5206G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489724.2:c.70G>A	ENSP00000497724.1:p.Ala24Thr
ENST00000647897.1:c.70G>A MANE Select	ENSP00000496942.1:p.Ala24Thr
ENST00000307768.4:c.70G>A	ENSP00000306106.4:p.Ala24Thr
ENST00000489724.1:n.160G>A
ENST00000616966.2:c.70G>A	ENSP00000481606.1:p.Ala24Thr
NM_032492.3:c.70G>A	NP_115881.3:p.Ala24Thr
NM_001363890.1:c.-199G>A	NP_001350819.1:n.-199G>A
NM_032492.4:c.70G>A MANE Select	NP_115881.3:p.Ala24Thr