Canonical Allele Identifier: CA408238575
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.1138C>G MANE Select ENSP00000254958.4:p.Pro380Ala
ENST00000617965.2:n.1727C>G
ENST00000254958.9:c.1138C>G ENSP00000254958.4:p.Pro380Ala
ENST00000423891.6:n.1004C>G
NM_000214.2:c.1138C>G NP_000205.1:p.Pro380Ala
NM_000214.3:c.1138C>G MANE Select NP_000205.1:p.Pro380Ala