Canonical Allele Identifier: CA408240207
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658587T>A , CM000682.2:g.10658587T>A GRCh38
NC_000020.10:g.10639235T>A , CM000682.1:g.10639235T>A GRCh37
NC_000020.9:g.10587235T>A NCBI36
NG_007496.1:g.20460A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.575A>T MANE Select ENSP00000254958.4:p.Tyr192Phe
ENST00000254958.9:c.575A>T ENSP00000254958.4:p.Tyr192Phe
ENST00000423891.6:n.441A>T
NM_000214.2:c.575A>T NP_000205.1:p.Tyr192Phe
NM_000214.3:c.575A>T MANE Select NP_000205.1:p.Tyr192Phe