Canonical Allele Identifier: CA506078615
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15302781G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191970G>T , CM000681.2:g.15191970G>T GRCh38
NC_000019.9:g.15302781G>T , CM000681.1:g.15302781G>T GRCh37
NC_000019.8:g.15163781G>T NCBI36
NG_009819.1:g.14012C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.669C>A MANE Select ENSP00000263388.1:p.Ala223=
ENST00000263388.6:c.669C>A ENSP00000263388.1:p.Ala223=
ENST00000601011.1:c.666C>A ENSP00000473138.1:p.Ala222=
NM_000435.2:c.669C>A NP_000426.2:p.Ala223=
XM_005259924.3:c.669C>A XP_005259981.1:p.Ala223=
XM_005259924.4:c.669C>A XP_005259981.1:p.Ala223=
NM_000435.3:c.669C>A MANE Select NP_000426.2:p.Ala223=
Search 100 bp 5'
Search 100 bp 3'