Canonical Allele Identifier: CA2664359602
Gene: JAGN1 HGNC NCBI

Linked Data

gnomAD v4: 3-9890829-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890829G>T , CM000665.2:g.9890829G>T GRCh38
NC_000003.11:g.9932513G>T , CM000665.1:g.9932513G>T GRCh37
NC_000003.10:g.9907513G>T NCBI36
NG_041779.1:g.5243G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.89+18G>T ENSP00000497724.1:n.89+18G>T
ENST00000647897.1:c.89+18G>T MANE Select ENSP00000496942.1:n.89+18G>T
ENST00000307768.4:c.89+18G>T ENSP00000306106.4:n.89+18G>T
ENST00000489724.1:n.179+18G>T
ENST00000616966.2:c.89+18G>T ENSP00000481606.1:n.89+18G>T
NM_032492.3:c.89+18G>T NP_115881.3:n.89+18G>T
NM_001363890.1:c.-180+18G>T NP_001350819.1:n.-180+18G>T
NM_032492.4:c.89+18G>T MANE Select NP_115881.3:n.89+18G>T