Canonical Allele Identifier: CA505824365
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15291021A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180210A>G , CM000681.2:g.15180210A>G GRCh38
NC_000019.9:g.15291021A>G , CM000681.1:g.15291021A>G GRCh37
NC_000019.8:g.15152021A>G NCBI36
NG_009819.1:g.25772T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3189T>C MANE Select ENSP00000263388.1:p.Asp1063=
ENST00000263388.6:c.3189T>C ENSP00000263388.1:p.Asp1063=
ENST00000601011.1:c.3030T>C ENSP00000473138.1:p.Asp1010=
NM_000435.2:c.3189T>C NP_000426.2:p.Asp1063=
XM_005259924.3:c.3033T>C XP_005259981.1:p.Asp1011=
XM_005259924.4:c.3033T>C XP_005259981.1:p.Asp1011=
NM_000435.3:c.3189T>C MANE Select NP_000426.2:p.Asp1063=