Canonical Allele Identifier: CA509816447
Gene: JAG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.10639219A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658571A>G , CM000682.2:g.10658571A>G GRCh38
NC_000020.10:g.10639219A>G , CM000682.1:g.10639219A>G GRCh37
NC_000020.9:g.10587219A>G NCBI36
NG_007496.1:g.20476T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.591T>C MANE Select ENSP00000254958.4:p.Asn197=
ENST00000254958.9:c.591T>C ENSP00000254958.4:p.Asn197=
ENST00000423891.6:n.457T>C
NM_000214.2:c.591T>C NP_000205.1:p.Asn197=
NM_000214.3:c.591T>C MANE Select NP_000205.1:p.Asn197=