Canonical Allele Identifier: CA404524729
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15297959G>T (hg19) chr19:g.15187148G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000263388.7:c.1797C>A MANE Select ENSP00000263388.1:p.Asp599Glu
ENST00000263388.6:c.1797C>A ENSP00000263388.1:p.Asp599Glu
ENST00000601011.1:c.1794C>A ENSP00000473138.1:p.Asp598Glu
NM_000435.2:c.1797C>A NP_000426.2:p.Asp599Glu
XM_005259924.3:c.1797C>A XP_005259981.1:p.Asp599Glu
XM_005259924.4:c.1797C>A XP_005259981.1:p.Asp599Glu
NM_000435.3:c.1797C>A MANE Select NP_000426.2:p.Asp599Glu
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