Canonical Allele Identifier: CA2324750061
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192224C= , CM000681.2:g.15192224C= GRCh38
NC_000019.9:g.15303035C= , CM000681.1:g.15303035C= GRCh37
NC_000019.8:g.15164035C= NCBI36
NG_009819.1:g.13758G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.415G= MANE Select ENSP00000263388.1:p.Asp139=
ENST00000263388.6:c.415G= ENSP00000263388.1:p.Asp139=
ENST00000601011.1:c.412G= ENSP00000473138.1:p.Asp138=
NM_000435.2:c.415G= NP_000426.2:p.Asp139=
XM_005259924.3:c.415G= XP_005259981.1:p.Asp139=
XM_005259924.4:c.415G= XP_005259981.1:p.Asp139=
NM_000435.3:c.415G= MANE Select NP_000426.2:p.Asp139=