Canonical Allele Identifier: CA408235029
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644953G>A , CM000682.2:g.10644953G>A GRCh38
NC_000020.10:g.10625601G>A , CM000682.1:g.10625601G>A GRCh37
NC_000020.9:g.10573601G>A NCBI36
NG_007496.1:g.34094C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2254C>T MANE Select ENSP00000254958.4:p.Pro752Ser
ENST00000617965.2:n.2843C>T
ENST00000254958.9:c.2254C>T ENSP00000254958.4:p.Pro752Ser
ENST00000423891.6:n.2120C>T
ENST00000488480.2:n.651C>T
NM_000214.2:c.2254C>T NP_000205.1:p.Pro752Ser
NM_000214.3:c.2254C>T MANE Select NP_000205.1:p.Pro752Ser