Canonical Allele Identifier: CA408240181
Gene: JAG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.10639228A>C (hg19) chr20:g.10658580A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658580A>C , CM000682.2:g.10658580A>C GRCh38
NC_000020.10:g.10639228A>C , CM000682.1:g.10639228A>C GRCh37
NC_000020.9:g.10587228A>C NCBI36
NG_007496.1:g.20467T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.582T>G MANE Select ENSP00000254958.4:p.Phe194Leu
ENST00000254958.9:c.582T>G ENSP00000254958.4:p.Phe194Leu
ENST00000423891.6:n.448T>G
NM_000214.2:c.582T>G NP_000205.1:p.Phe194Leu
NM_000214.3:c.582T>G MANE Select NP_000205.1:p.Phe194Leu
Search 100 bp 5'
Search 100 bp 3'