Canonical Allele Identifier: CA408238362
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10650248T>A , CM000682.2:g.10650248T>A GRCh38
NC_000020.10:g.10630896T>A , CM000682.1:g.10630896T>A GRCh37
NC_000020.9:g.10578896T>A NCBI36
NG_007496.1:g.28799A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.1233A>T MANE Select ENSP00000254958.4:p.Leu411Phe
ENST00000617965.2:n.1822A>T
ENST00000254958.9:c.1233A>T ENSP00000254958.4:p.Leu411Phe
ENST00000423891.6:n.1099A>T
ENST00000622545.1:c.10A>T
NM_000214.2:c.1233A>T NP_000205.1:p.Leu411Phe
NM_000214.3:c.1233A>T MANE Select NP_000205.1:p.Leu411Phe