Canonical Allele Identifier: CA506078613
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15302775A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191964A>T , CM000681.2:g.15191964A>T GRCh38
NC_000019.9:g.15302775A>T , CM000681.1:g.15302775A>T GRCh37
NC_000019.8:g.15163775A>T NCBI36
NG_009819.1:g.14018T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.675T>A MANE Select ENSP00000263388.1:p.Leu225=
ENST00000263388.6:c.675T>A ENSP00000263388.1:p.Leu225=
ENST00000601011.1:c.672T>A ENSP00000473138.1:p.Leu224=
NM_000435.2:c.675T>A NP_000426.2:p.Leu225=
XM_005259924.3:c.675T>A XP_005259981.1:p.Leu225=
XM_005259924.4:c.675T>A XP_005259981.1:p.Leu225=
NM_000435.3:c.675T>A MANE Select NP_000426.2:p.Leu225=
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