Canonical Allele Identifier: CA2324749991
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192094C= , CM000681.2:g.15192094C= GRCh38
NC_000019.9:g.15302905C= , CM000681.1:g.15302905C= GRCh37
NC_000019.8:g.15163905C= NCBI36
NG_009819.1:g.13888G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.545G= MANE Select ENSP00000263388.1:p.Arg182=
ENST00000263388.6:c.545G= ENSP00000263388.1:p.Arg182=
ENST00000601011.1:c.542G= ENSP00000473138.1:p.Arg181=
NM_000435.2:c.545G= NP_000426.2:p.Arg182=
XM_005259924.3:c.545G= XP_005259981.1:p.Arg182=
XM_005259924.4:c.545G= XP_005259981.1:p.Arg182=
NM_000435.3:c.545G= MANE Select NP_000426.2:p.Arg182=