Canonical Allele Identifier: CA404513624
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180182G>A , CM000681.2:g.15180182G>A GRCh38
NC_000019.9:g.15290993G>A , CM000681.1:g.15290993G>A GRCh37
NC_000019.8:g.15151993G>A NCBI36
NG_009819.1:g.25800C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3217C>T MANE Select ENSP00000263388.1:p.Pro1073Ser
ENST00000263388.6:c.3217C>T ENSP00000263388.1:p.Pro1073Ser
ENST00000601011.1:c.3058C>T ENSP00000473138.1:p.Pro1020Ser
NM_000435.2:c.3217C>T NP_000426.2:p.Pro1073Ser
XM_005259924.3:c.3061C>T XP_005259981.1:p.Pro1021Ser
XM_005259924.4:c.3061C>T XP_005259981.1:p.Pro1021Ser
NM_000435.3:c.3217C>T MANE Select NP_000426.2:p.Pro1073Ser