Canonical Allele Identifier: CA311348010
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs934075905
gnomAD v4: 20-10650343-G-A
MyVariant Identifiers: chr20:g.10630991G>A (hg19) chr20:g.10650343G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10650343G>A , CM000682.2:g.10650343G>A GRCh38
NC_000020.10:g.10630991G>A , CM000682.1:g.10630991G>A GRCh37
NC_000020.9:g.10578991G>A NCBI36
NG_007496.1:g.28704C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.1138C>T MANE Select ENSP00000254958.4:p.Pro380Ser
ENST00000617965.2:n.1727C>T
ENST00000254958.9:c.1138C>T ENSP00000254958.4:p.Pro380Ser
ENST00000423891.6:n.1004C>T
NM_000214.2:c.1138C>T NP_000205.1:p.Pro380Ser
NM_000214.3:c.1138C>T MANE Select NP_000205.1:p.Pro380Ser
Search 100 bp 5'
Search 100 bp 3'