Canonical Allele Identifier: CA408240099
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658557G>C , CM000682.2:g.10658557G>C GRCh38
NC_000020.10:g.10639205G>C , CM000682.1:g.10639205G>C GRCh37
NC_000020.9:g.10587205G>C NCBI36
NG_007496.1:g.20490C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.605C>G MANE Select ENSP00000254958.4:p.Pro202Arg
ENST00000254958.9:c.605C>G ENSP00000254958.4:p.Pro202Arg
ENST00000423891.6:n.471C>G
NM_000214.2:c.605C>G NP_000205.1:p.Pro202Arg
NM_000214.3:c.605C>G MANE Select NP_000205.1:p.Pro202Arg