Canonical Allele Identifier: CA408239784
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10656420A>T , CM000682.2:g.10656420A>T GRCh38
NC_000020.10:g.10637068A>T , CM000682.1:g.10637068A>T GRCh37
NC_000020.9:g.10585068A>T NCBI36
NG_007496.1:g.22627T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.733T>A MANE Select ENSP00000254958.4:p.Cys245Ser
ENST00000254958.9:c.733T>A ENSP00000254958.4:p.Cys245Ser
ENST00000423891.6:n.599T>A
NM_000214.2:c.733T>A NP_000205.1:p.Cys245Ser
NM_000214.3:c.733T>A MANE Select NP_000205.1:p.Cys245Ser