Canonical Allele Identifier: CA311351517
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs925002260
MyVariant Identifiers: chr20:g.10639246A>G (hg19) chr20:g.10658598A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658598A>G , CM000682.2:g.10658598A>G GRCh38
NC_000020.10:g.10639246A>G , CM000682.1:g.10639246A>G GRCh37
NC_000020.9:g.10587246A>G NCBI36
NG_007496.1:g.20449T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.564T>C MANE Select ENSP00000254958.4:p.Asp188=
ENST00000254958.9:c.564T>C ENSP00000254958.4:p.Asp188=
ENST00000423891.6:n.430T>C
NM_000214.2:c.564T>C NP_000205.1:p.Asp188=
NM_000214.3:c.564T>C MANE Select NP_000205.1:p.Asp188=
Search 100 bp 5'
Search 100 bp 3'