Canonical Allele Identifier: CA741106187
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1336583491
MyVariant Identifiers: chr20:g.10625349T>G (hg19) chr20:g.10644701T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644701T>G , CM000682.2:g.10644701T>G GRCh38
NC_000020.10:g.10625349T>G , CM000682.1:g.10625349T>G GRCh37
NC_000020.9:g.10573349T>G NCBI36
NG_007496.1:g.34346A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+162A>C MANE Select ENSP00000254958.4:n.2344+162A>C
ENST00000617965.2:n.2933+162A>C
ENST00000254958.9:c.2344+162A>C ENSP00000254958.4:n.2344+162A>C
ENST00000423891.6:n.2210+162A>C
ENST00000488480.2:n.903A>C
NM_000214.2:c.2344+162A>C NP_000205.1:n.2344+162A>C
NM_000214.3:c.2344+162A>C MANE Select NP_000205.1:n.2344+162A>C
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