Canonical Allele Identifier: CA408238564
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10650338A>C , CM000682.2:g.10650338A>C GRCh38
NC_000020.10:g.10630986A>C , CM000682.1:g.10630986A>C GRCh37
NC_000020.9:g.10578986A>C NCBI36
NG_007496.1:g.28709T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.1143T>G MANE Select ENSP00000254958.4:p.Asn381Lys
ENST00000617965.2:n.1732T>G
ENST00000254958.9:c.1143T>G ENSP00000254958.4:p.Asn381Lys
ENST00000423891.6:n.1009T>G
NM_000214.2:c.1143T>G NP_000205.1:p.Asn381Lys
NM_000214.3:c.1143T>G MANE Select NP_000205.1:p.Asn381Lys