Canonical Allele Identifier: CA404512993
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2145420301

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180095A>T , CM000681.2:g.15180095A>T GRCh38
NC_000019.9:g.15290906A>T , CM000681.1:g.15290906A>T GRCh37
NC_000019.8:g.15151906A>T NCBI36
NG_009819.1:g.25887T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3304T>A MANE Select ENSP00000263388.1:p.Tyr1102Asn
ENST00000263388.6:c.3304T>A ENSP00000263388.1:p.Tyr1102Asn
ENST00000601011.1:c.3145T>A ENSP00000473138.1:p.Tyr1049Asn
NM_000435.2:c.3304T>A NP_000426.2:p.Tyr1102Asn
XM_005259924.3:c.3148T>A XP_005259981.1:p.Tyr1050Asn
XM_005259924.4:c.3148T>A XP_005259981.1:p.Tyr1050Asn
NM_000435.3:c.3304T>A MANE Select NP_000426.2:p.Tyr1102Asn