Canonical Allele Identifier: CA509662085
Gene: JAG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.10637081A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10656433A>C , CM000682.2:g.10656433A>C GRCh38
NC_000020.10:g.10637081A>C , CM000682.1:g.10637081A>C GRCh37
NC_000020.9:g.10585081A>C NCBI36
NG_007496.1:g.22614T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.720T>G MANE Select ENSP00000254958.4:p.Pro240=
ENST00000254958.9:c.720T>G ENSP00000254958.4:p.Pro240=
ENST00000423891.6:n.586T>G
NM_000214.2:c.720T>G NP_000205.1:p.Pro240=
NM_000214.3:c.720T>G MANE Select NP_000205.1:p.Pro240=