Canonical Allele Identifier: CA1344965590

Gene: JAGN1

Linked Data

• dbSNP Id: rs2082557986
• gnomAD v4: 3-9890868-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9890868T>C , CM000665.2:g.9890868T>C	GRCh38
NC_000003.11:g.9932552T>C , CM000665.1:g.9932552T>C	GRCh37
NC_000003.10:g.9907552T>C	NCBI36
NG_041779.1:g.5282T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489724.2:c.89+57T>C	ENSP00000497724.1:n.89+57T>C
ENST00000647897.1:c.89+57T>C MANE Select	ENSP00000496942.1:n.89+57T>C
ENST00000307768.4:c.89+57T>C	ENSP00000306106.4:n.89+57T>C
ENST00000489724.1:n.179+57T>C
ENST00000616966.2:c.89+57T>C	ENSP00000481606.1:n.89+57T>C
NM_032492.3:c.89+57T>C	NP_115881.3:n.89+57T>C
NM_001363890.1:c.-180+57T>C	NP_001350819.1:n.-180+57T>C
NM_032492.4:c.89+57T>C MANE Select	NP_115881.3:n.89+57T>C