Canonical Allele Identifier: CA506078767
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1375704781
MyVariant Identifiers: chr19:g.15302919T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192108T>A , CM000681.2:g.15192108T>A GRCh38
NC_000019.9:g.15302919T>A , CM000681.1:g.15302919T>A GRCh37
NC_000019.8:g.15163919T>A NCBI36
NG_009819.1:g.13874A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.531A>T MANE Select ENSP00000263388.1:p.Thr177=
ENST00000263388.6:c.531A>T ENSP00000263388.1:p.Thr177=
ENST00000601011.1:c.528A>T ENSP00000473138.1:p.Thr176=
NM_000435.2:c.531A>T NP_000426.2:p.Thr177=
XM_005259924.3:c.531A>T XP_005259981.1:p.Thr177=
XM_005259924.4:c.531A>T XP_005259981.1:p.Thr177=
NM_000435.3:c.531A>T MANE Select NP_000426.2:p.Thr177=