Canonical Allele Identifier: CA351712181

Gene: JAGN1

Linked Data

• gnomAD v4: 3-9890807-A-T
• MyVariant Identifiers: chr3:g.9932491A>T (hg19) ; chr3:g.9890807A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9890807A>T , CM000665.2:g.9890807A>T	GRCh38
NC_000003.11:g.9932491A>T , CM000665.1:g.9932491A>T	GRCh37
NC_000003.10:g.9907491A>T	NCBI36
NG_041779.1:g.5221A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489724.2:c.85A>T	ENSP00000497724.1:p.Met29Leu
ENST00000647897.1:c.85A>T MANE Select	ENSP00000496942.1:p.Met29Leu
ENST00000307768.4:c.85A>T	ENSP00000306106.4:p.Met29Leu
ENST00000489724.1:n.175A>T
ENST00000616966.2:c.85A>T	ENSP00000481606.1:p.Met29Leu
NM_032492.3:c.85A>T	NP_115881.3:p.Met29Leu
NM_001363890.1:c.-184A>T	NP_001350819.1:n.-184A>T
NM_032492.4:c.85A>T MANE Select	NP_115881.3:p.Met29Leu