Canonical Allele Identifier: CA408235032
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644954G>C , CM000682.2:g.10644954G>C GRCh38
NC_000020.10:g.10625602G>C , CM000682.1:g.10625602G>C GRCh37
NC_000020.9:g.10573602G>C NCBI36
NG_007496.1:g.34093C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2253C>G MANE Select ENSP00000254958.4:p.Asn751Lys
ENST00000617965.2:n.2842C>G
ENST00000254958.9:c.2253C>G ENSP00000254958.4:p.Asn751Lys
ENST00000423891.6:n.2119C>G
ENST00000488480.2:n.650C>G
NM_000214.2:c.2253C>G NP_000205.1:p.Asn751Lys
NM_000214.3:c.2253C>G MANE Select NP_000205.1:p.Asn751Lys