Canonical Allele Identifier: CA408240385

Gene: JAG1

Linked Data

• MyVariant Identifiers: chr20:g.10639281C>T (hg19) ; chr20:g.10658633C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658633C>T , CM000682.2:g.10658633C>T	GRCh38
NC_000020.10:g.10639281C>T , CM000682.1:g.10639281C>T	GRCh37
NC_000020.9:g.10587281C>T	NCBI36
NG_007496.1:g.20414G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.529G>A MANE Select	ENSP00000254958.4:p.Ala177Thr
ENST00000254958.9:c.529G>A	ENSP00000254958.4:p.Ala177Thr
ENST00000423891.6:n.395G>A
NM_000214.2:c.529G>A	NP_000205.1:p.Ala177Thr
NM_000214.3:c.529G>A MANE Select	NP_000205.1:p.Ala177Thr