Canonical Allele Identifier: CA408239227
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652483G>C , CM000682.2:g.10652483G>C GRCh38
NC_000020.10:g.10633131G>C , CM000682.1:g.10633131G>C GRCh37
NC_000020.9:g.10581131G>C NCBI36
NG_007496.1:g.26564C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.871C>G MANE Select ENSP00000254958.4:p.Gln291Glu
ENST00000617965.2:n.240C>G
ENST00000254958.9:c.871C>G ENSP00000254958.4:p.Gln291Glu
ENST00000423891.6:n.737C>G
ENST00000617965.1:n.240C>G
NM_000214.2:c.871C>G NP_000205.1:p.Gln291Glu
NM_000214.3:c.871C>G MANE Select NP_000205.1:p.Gln291Glu