Canonical Allele Identifier: CA408239490
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652597A>C , CM000682.2:g.10652597A>C GRCh38
NC_000020.10:g.10633245A>C , CM000682.1:g.10633245A>C GRCh37
NC_000020.9:g.10581245A>C NCBI36
NG_007496.1:g.26450T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.757T>G MANE Select ENSP00000254958.4:p.Cys253Gly
ENST00000617965.2:n.126T>G
ENST00000254958.9:c.757T>G ENSP00000254958.4:p.Cys253Gly
ENST00000423891.6:n.623T>G
ENST00000617965.1:n.126T>G
NM_000214.2:c.757T>G NP_000205.1:p.Cys253Gly
NM_000214.3:c.757T>G MANE Select NP_000205.1:p.Cys253Gly