Canonical Allele Identifier: CA408235035
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644956T>C , CM000682.2:g.10644956T>C GRCh38
NC_000020.10:g.10625604T>C , CM000682.1:g.10625604T>C GRCh37
NC_000020.9:g.10573604T>C NCBI36
NG_007496.1:g.34091A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2251A>G MANE Select ENSP00000254958.4:p.Asn751Asp
ENST00000617965.2:n.2840A>G
ENST00000254958.9:c.2251A>G ENSP00000254958.4:p.Asn751Asp
ENST00000423891.6:n.2117A>G
ENST00000488480.2:n.648A>G
NM_000214.2:c.2251A>G NP_000205.1:p.Asn751Asp
NM_000214.3:c.2251A>G MANE Select NP_000205.1:p.Asn751Asp