Canonical Allele Identifier: CA408239996
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658515C>T , CM000682.2:g.10658515C>T GRCh38
NC_000020.10:g.10639163C>T , CM000682.1:g.10639163C>T GRCh37
NC_000020.9:g.10587163C>T NCBI36
NG_007496.1:g.20532G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.647G>A MANE Select ENSP00000254958.4:p.Gly216Asp
ENST00000254958.9:c.647G>A ENSP00000254958.4:p.Gly216Asp
ENST00000423891.6:n.513G>A
NM_000214.2:c.647G>A NP_000205.1:p.Gly216Asp
NM_000214.3:c.647G>A MANE Select NP_000205.1:p.Gly216Asp