Canonical Allele Identifier: CA509816462
Gene: JAG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.10639231G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658583G>A , CM000682.2:g.10658583G>A GRCh38
NC_000020.10:g.10639231G>A , CM000682.1:g.10639231G>A GRCh37
NC_000020.9:g.10587231G>A NCBI36
NG_007496.1:g.20464C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.579C>T MANE Select ENSP00000254958.4:p.Gly193=
ENST00000254958.9:c.579C>T ENSP00000254958.4:p.Gly193=
ENST00000423891.6:n.445C>T
NM_000214.2:c.579C>T NP_000205.1:p.Gly193=
NM_000214.3:c.579C>T MANE Select NP_000205.1:p.Gly193=