Canonical Allele Identifier: CA351712175

Gene: JAGN1

Linked Data

• gnomAD v4: 3-9890805-A-T
• MyVariant Identifiers: chr3:g.9932489A>T (hg19) ; chr3:g.9890805A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9890805A>T , CM000665.2:g.9890805A>T	GRCh38
NC_000003.11:g.9932489A>T , CM000665.1:g.9932489A>T	GRCh37
NC_000003.10:g.9907489A>T	NCBI36
NG_041779.1:g.5219A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489724.2:c.83A>T	ENSP00000497724.1:p.Gln28Leu
ENST00000647897.1:c.83A>T MANE Select	ENSP00000496942.1:p.Gln28Leu
ENST00000307768.4:c.83A>T	ENSP00000306106.4:p.Gln28Leu
ENST00000489724.1:n.173A>T
ENST00000616966.2:c.83A>T	ENSP00000481606.1:p.Gln28Leu
NM_032492.3:c.83A>T	NP_115881.3:p.Gln28Leu
NM_001363890.1:c.-186A>T	NP_001350819.1:n.-186A>T
NM_032492.4:c.83A>T MANE Select	NP_115881.3:p.Gln28Leu