Canonical Allele Identifier: CA2324749938
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191989T= , CM000681.2:g.15191989T= GRCh38
NC_000019.9:g.15302800T= , CM000681.1:g.15302800T= GRCh37
NC_000019.8:g.15163800T= NCBI36
NG_009819.1:g.13993A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.650A= MANE Select ENSP00000263388.1:p.Asp217=
ENST00000263388.6:c.650A= ENSP00000263388.1:p.Asp217=
ENST00000601011.1:c.647A= ENSP00000473138.1:p.Asp216=
NM_000435.2:c.650A= NP_000426.2:p.Asp217=
XM_005259924.3:c.650A= XP_005259981.1:p.Asp217=
XM_005259924.4:c.650A= XP_005259981.1:p.Asp217=
NM_000435.3:c.650A= MANE Select NP_000426.2:p.Asp217=