Canonical Allele Identifier: CA408235041
Gene: JAG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.10625607G>T (hg19) chr20:g.10644959G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644959G>T , CM000682.2:g.10644959G>T GRCh38
NC_000020.10:g.10625607G>T , CM000682.1:g.10625607G>T GRCh37
NC_000020.9:g.10573607G>T NCBI36
NG_007496.1:g.34088C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2248C>A MANE Select ENSP00000254958.4:p.Pro750Thr
ENST00000617965.2:n.2837C>A
ENST00000254958.9:c.2248C>A ENSP00000254958.4:p.Pro750Thr
ENST00000423891.6:n.2114C>A
ENST00000488480.2:n.645C>A
NM_000214.2:c.2248C>A NP_000205.1:p.Pro750Thr
NM_000214.3:c.2248C>A MANE Select NP_000205.1:p.Pro750Thr
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