Canonical Allele Identifier: CA506078442
Gene: NOTCH3 HGNC NCBI

Linked Data

gnomAD v4: 19-15187148-G-A
MyVariant Identifiers: chr19:g.15297959G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187148G>A , CM000681.2:g.15187148G>A GRCh38
NC_000019.9:g.15297959G>A , CM000681.1:g.15297959G>A GRCh37
NC_000019.8:g.15158959G>A NCBI36
NG_009819.1:g.18834C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1797C>T MANE Select ENSP00000263388.1:p.Asp599=
ENST00000263388.6:c.1797C>T ENSP00000263388.1:p.Asp599=
ENST00000601011.1:c.1794C>T ENSP00000473138.1:p.Asp598=
NM_000435.2:c.1797C>T NP_000426.2:p.Asp599=
XM_005259924.3:c.1797C>T XP_005259981.1:p.Asp599=
XM_005259924.4:c.1797C>T XP_005259981.1:p.Asp599=
NM_000435.3:c.1797C>T MANE Select NP_000426.2:p.Asp599=
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