Canonical Allele Identifier: CA270004
Community Standard Title: NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser)
Gene: JAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10648607T>C , CM000682.2:g.10648607T>C GRCh38
NC_000020.10:g.10629255T>C , CM000682.1:g.10629255T>C GRCh37
NC_000020.9:g.10577255T>C NCBI36
NG_007496.1:g.30440A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000214.3:c.1511A>G MANE Select NP_000205.1:p.Asn504Ser
ENST00000254958.10:c.1511A>G MANE Select ENSP00000254958.4:p.Asn504Ser
NM_000214.2:c.1511A>G NP_000205.1:p.Asn504Ser
ENST00000254958.9:c.1511A>G ENSP00000254958.4:p.Asn504Ser
ENST00000423891.6:n.1377A>G
ENST00000617965.2:n.2100A>G
ENST00000620743.1:n.568A>G
ENST00000622545.1:c.242A>G
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