Canonical Allele Identifier: CA741105591
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1366463718
MyVariant Identifiers: chr20:g.10624625T>G (hg19) chr20:g.10643977T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643977T>G , CM000682.2:g.10643977T>G GRCh38
NC_000020.10:g.10624625T>G , CM000682.1:g.10624625T>G GRCh37
NC_000020.9:g.10572625T>G NCBI36
NG_007496.1:g.35070A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-114A>C MANE Select ENSP00000254958.4:n.2373-114A>C
ENST00000617965.2:n.2962-114A>C
ENST00000254958.9:c.2373-114A>C ENSP00000254958.4:n.2373-114A>C
ENST00000423891.6:n.2239-114A>C
NM_000214.2:c.2373-114A>C NP_000205.1:n.2373-114A>C
NM_000214.3:c.2373-114A>C MANE Select NP_000205.1:n.2373-114A>C
Search 100 bp 5'
Search 100 bp 3'