Canonical Allele Identifier: CA509659934
Gene: JAG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.10625610G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644962G>A , CM000682.2:g.10644962G>A GRCh38
NC_000020.10:g.10625610G>A , CM000682.1:g.10625610G>A GRCh37
NC_000020.9:g.10573610G>A NCBI36
NG_007496.1:g.34085C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2245C>T MANE Select ENSP00000254958.4:p.Leu749=
ENST00000617965.2:n.2834C>T
ENST00000254958.9:c.2245C>T ENSP00000254958.4:p.Leu749=
ENST00000423891.6:n.2111C>T
ENST00000488480.2:n.642C>T
NM_000214.2:c.2245C>T NP_000205.1:p.Leu749=
NM_000214.3:c.2245C>T MANE Select NP_000205.1:p.Leu749=