Canonical Allele Identifier: CA506078404
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15297917T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187106T>G , CM000681.2:g.15187106T>G GRCh38
NC_000019.9:g.15297917T>G , CM000681.1:g.15297917T>G GRCh37
NC_000019.8:g.15158917T>G NCBI36
NG_009819.1:g.18876A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1839A>C MANE Select ENSP00000263388.1:p.Thr613=
ENST00000263388.6:c.1839A>C ENSP00000263388.1:p.Thr613=
ENST00000601011.1:c.1836A>C ENSP00000473138.1:p.Thr612=
NM_000435.2:c.1839A>C NP_000426.2:p.Thr613=
XM_005259924.3:c.1839A>C XP_005259981.1:p.Thr613=
XM_005259924.4:c.1839A>C XP_005259981.1:p.Thr613=
NM_000435.3:c.1839A>C MANE Select NP_000426.2:p.Thr613=