Canonical Allele Identifier: CA9764551
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs763141857
ExAC: 20:10625498 G / A
gnomAD v2: 20-10625498-G-A
gnomAD v4: 20-10644850-G-A
MyVariant Identifiers: chr20:g.10625498G>A (hg19) chr20:g.10644850G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644850G>A , CM000682.2:g.10644850G>A GRCh38
NC_000020.10:g.10625498G>A , CM000682.1:g.10625498G>A GRCh37
NC_000020.9:g.10573498G>A NCBI36
NG_007496.1:g.34197C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+13C>T MANE Select ENSP00000254958.4:n.2344+13C>T
ENST00000617965.2:n.2933+13C>T
ENST00000254958.9:c.2344+13C>T ENSP00000254958.4:n.2344+13C>T
ENST00000423891.6:n.2210+13C>T
ENST00000488480.2:n.754C>T
NM_000214.2:c.2344+13C>T NP_000205.1:n.2344+13C>T
NM_000214.3:c.2344+13C>T MANE Select NP_000205.1:n.2344+13C>T
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