Canonical Allele Identifier: CA509816594
Gene: JAG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.10639300C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658652C>G , CM000682.2:g.10658652C>G GRCh38
NC_000020.10:g.10639300C>G , CM000682.1:g.10639300C>G GRCh37
NC_000020.9:g.10587300C>G NCBI36
NG_007496.1:g.20395G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.510G>C MANE Select ENSP00000254958.4:p.Leu170=
ENST00000254958.9:c.510G>C ENSP00000254958.4:p.Leu170=
ENST00000423891.6:n.376G>C
NM_000214.2:c.510G>C NP_000205.1:p.Leu170=
NM_000214.3:c.510G>C MANE Select NP_000205.1:p.Leu170=