Canonical Allele Identifier: CA404533078
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15302783C>T (hg19) chr19:g.15191972C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191972C>T , CM000681.2:g.15191972C>T GRCh38
NC_000019.9:g.15302783C>T , CM000681.1:g.15302783C>T GRCh37
NC_000019.8:g.15163783C>T NCBI36
NG_009819.1:g.14010G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263388.7:c.667G>A MANE Select ENSP00000263388.1:p.Ala223Thr
ENST00000263388.6:c.667G>A ENSP00000263388.1:p.Ala223Thr
ENST00000601011.1:c.664G>A ENSP00000473138.1:p.Ala222Thr
NM_000435.2:c.667G>A NP_000426.2:p.Ala223Thr
XM_005259924.3:c.667G>A XP_005259981.1:p.Ala223Thr
XM_005259924.4:c.667G>A XP_005259981.1:p.Ala223Thr
NM_000435.3:c.667G>A MANE Select NP_000426.2:p.Ala223Thr
Search 100 bp 5'
Search 100 bp 3'