Canonical Allele Identifier: CA2651919727
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673775T>C , CM000682.2:g.10673775T>C GRCh38
NC_000020.10:g.10654423T>C , CM000682.1:g.10654423T>C GRCh37
NC_000020.9:g.10602423T>C NCBI36
NG_007496.1:g.5272A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-245A>G MANE Select ENSP00000254958.4:n.-245A>G
ENST00000254958.9:c.-245A>G ENSP00000254958.4:n.-245A>G
NM_000214.2:c.-245A>G NP_000205.1:n.-245A>G
NM_000214.3:c.-245A>G MANE Select NP_000205.1:n.-245A>G