Canonical Allele Identifier: CA2245807

Gene: JAGN1

Linked Data

• dbSNP Id: rs754610825
• ExAC: 3:9932528 C / T
• gnomAD v2: 3-9932528-C-T
• gnomAD v4: 3-9890844-C-T
• MyVariant Identifiers: chr3:g.9932528C>T (hg19) ; chr3:g.9890844C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9890844C>T , CM000665.2:g.9890844C>T	GRCh38
NC_000003.11:g.9932528C>T , CM000665.1:g.9932528C>T	GRCh37
NC_000003.10:g.9907528C>T	NCBI36
NG_041779.1:g.5258C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489724.2:c.89+33C>T	ENSP00000497724.1:n.89+33C>T
ENST00000647897.1:c.89+33C>T MANE Select	ENSP00000496942.1:n.89+33C>T
ENST00000307768.4:c.89+33C>T	ENSP00000306106.4:n.89+33C>T
ENST00000489724.1:n.179+33C>T
ENST00000616966.2:c.89+33C>T	ENSP00000481606.1:n.89+33C>T
NM_032492.3:c.89+33C>T	NP_115881.3:n.89+33C>T
NM_001363890.1:c.-180+33C>T	NP_001350819.1:n.-180+33C>T
NM_032492.4:c.89+33C>T MANE Select	NP_115881.3:n.89+33C>T