Canonical Allele Identifier: CA505824332
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15290973G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180162G>A , CM000681.2:g.15180162G>A GRCh38
NC_000019.9:g.15290973G>A , CM000681.1:g.15290973G>A GRCh37
NC_000019.8:g.15151973G>A NCBI36
NG_009819.1:g.25820C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3237C>T MANE Select ENSP00000263388.1:p.Ser1079=
ENST00000263388.6:c.3237C>T ENSP00000263388.1:p.Ser1079=
ENST00000601011.1:c.3078C>T ENSP00000473138.1:p.Ser1026=
NM_000435.2:c.3237C>T NP_000426.2:p.Ser1079=
XM_005259924.3:c.3081C>T XP_005259981.1:p.Ser1027=
XM_005259924.4:c.3081C>T XP_005259981.1:p.Ser1027=
NM_000435.3:c.3237C>T MANE Select NP_000426.2:p.Ser1079=