Canonical Allele Identifier: CA506078732
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2046932414
MyVariant Identifiers: chr19:g.15302895A>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192084A>G , CM000681.2:g.15192084A>G GRCh38
NC_000019.9:g.15302895A>G , CM000681.1:g.15302895A>G GRCh37
NC_000019.8:g.15163895A>G NCBI36
NG_009819.1:g.13898T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.555T>C MANE Select ENSP00000263388.1:p.Cys185=
ENST00000263388.6:c.555T>C ENSP00000263388.1:p.Cys185=
ENST00000601011.1:c.552T>C ENSP00000473138.1:p.Cys184=
NM_000435.2:c.555T>C NP_000426.2:p.Cys185=
XM_005259924.3:c.555T>C XP_005259981.1:p.Cys185=
XM_005259924.4:c.555T>C XP_005259981.1:p.Cys185=
NM_000435.3:c.555T>C MANE Select NP_000426.2:p.Cys185=
Search 100 bp 5'
Search 100 bp 3'