Canonical Allele Identifier: CA505826129
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15295155T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15184344T>A , CM000681.2:g.15184344T>A GRCh38
NC_000019.9:g.15295155T>A , CM000681.1:g.15295155T>A GRCh37
NC_000019.8:g.15156155T>A NCBI36
NG_009819.1:g.21638A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.2517A>T MANE Select ENSP00000263388.1:p.Gly839=
ENST00000263388.6:c.2517A>T ENSP00000263388.1:p.Gly839=
ENST00000601011.1:c.2407+562A>T ENSP00000473138.1:n.2407+562A>T
NM_000435.2:c.2517A>T NP_000426.2:p.Gly839=
XM_005259924.3:c.2410+562A>T XP_005259981.1:n.2410+562A>T
XM_005259924.4:c.2410+562A>T XP_005259981.1:n.2410+562A>T
NM_000435.3:c.2517A>T MANE Select NP_000426.2:p.Gly839=