Canonical Allele Identifier: CA9764571
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs761942250
ExAC: 20:10625603 T / G
gnomAD v2: 20-10625603-T-G
gnomAD v4: 20-10644955-T-G
MyVariant Identifiers: chr20:g.10625603T>G (hg19) chr20:g.10644955T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644955T>G , CM000682.2:g.10644955T>G GRCh38
NC_000020.10:g.10625603T>G , CM000682.1:g.10625603T>G GRCh37
NC_000020.9:g.10573603T>G NCBI36
NG_007496.1:g.34092A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2252A>C MANE Select ENSP00000254958.4:p.Asn751Thr
ENST00000617965.2:n.2841A>C
ENST00000254958.9:c.2252A>C ENSP00000254958.4:p.Asn751Thr
ENST00000423891.6:n.2118A>C
ENST00000488480.2:n.649A>C
NM_000214.2:c.2252A>C NP_000205.1:p.Asn751Thr
NM_000214.3:c.2252A>C MANE Select NP_000205.1:p.Asn751Thr
Search 100 bp 5'
Search 100 bp 3'