Canonical Allele Identifier: CA509659915
Gene: JAG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.10625599G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644951G>T , CM000682.2:g.10644951G>T GRCh38
NC_000020.10:g.10625599G>T , CM000682.1:g.10625599G>T GRCh37
NC_000020.9:g.10573599G>T NCBI36
NG_007496.1:g.34096C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2256C>A MANE Select ENSP00000254958.4:p.Pro752=
ENST00000617965.2:n.2845C>A
ENST00000254958.9:c.2256C>A ENSP00000254958.4:p.Pro752=
ENST00000423891.6:n.2122C>A
ENST00000488480.2:n.653C>A
NM_000214.2:c.2256C>A NP_000205.1:p.Pro752=
NM_000214.3:c.2256C>A MANE Select NP_000205.1:p.Pro752=
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