Canonical Allele Identifier: CA408235554
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10645438G>T , CM000682.2:g.10645438G>T GRCh38
NC_000020.10:g.10626086G>T , CM000682.1:g.10626086G>T GRCh37
NC_000020.9:g.10574086G>T NCBI36
NG_007496.1:g.33609C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2031C>A MANE Select ENSP00000254958.4:p.His677Gln
ENST00000617965.2:n.2620C>A
ENST00000254958.9:c.2031C>A ENSP00000254958.4:p.His677Gln
ENST00000423891.6:n.1897C>A
ENST00000488480.2:n.428C>A
ENST00000612857.1:n.520C>A
NM_000214.2:c.2031C>A NP_000205.1:p.His677Gln
NM_000214.3:c.2031C>A MANE Select NP_000205.1:p.His677Gln