Canonical Allele Identifier: CA506078604
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2145440896
MyVariant Identifiers: chr19:g.15302668A>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191857A>T , CM000681.2:g.15191857A>T GRCh38
NC_000019.9:g.15302668A>T , CM000681.1:g.15302668A>T GRCh37
NC_000019.8:g.15163668A>T NCBI36
NG_009819.1:g.14125T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.690T>A MANE Select ENSP00000263388.1:p.Gly230=
ENST00000263388.6:c.690T>A ENSP00000263388.1:p.Gly230=
ENST00000601011.1:c.687T>A ENSP00000473138.1:p.Gly229=
NM_000435.2:c.690T>A NP_000426.2:p.Gly230=
XM_005259924.3:c.690T>A XP_005259981.1:p.Gly230=
XM_005259924.4:c.690T>A XP_005259981.1:p.Gly230=
NM_000435.3:c.690T>A MANE Select NP_000426.2:p.Gly230=
Search 100 bp 5'
Search 100 bp 3'