Canonical Allele Identifier: CA2324750060
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192223T= , CM000681.2:g.15192223T= GRCh38
NC_000019.9:g.15303034T= , CM000681.1:g.15303034T= GRCh37
NC_000019.8:g.15164034T= NCBI36
NG_009819.1:g.13759A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.416A= MANE Select ENSP00000263388.1:p.Asp139=
ENST00000263388.6:c.416A= ENSP00000263388.1:p.Asp139=
ENST00000601011.1:c.413A= ENSP00000473138.1:p.Asp138=
NM_000435.2:c.416A= NP_000426.2:p.Asp139=
XM_005259924.3:c.416A= XP_005259981.1:p.Asp139=
XM_005259924.4:c.416A= XP_005259981.1:p.Asp139=
NM_000435.3:c.416A= MANE Select NP_000426.2:p.Asp139=