Canonical Allele Identifier: CA505824359
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15291009G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180198G>T , CM000681.2:g.15180198G>T GRCh38
NC_000019.9:g.15291009G>T , CM000681.1:g.15291009G>T GRCh37
NC_000019.8:g.15152009G>T NCBI36
NG_009819.1:g.25784C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3201C>A MANE Select ENSP00000263388.1:p.Ser1067=
ENST00000263388.6:c.3201C>A ENSP00000263388.1:p.Ser1067=
ENST00000601011.1:c.3042C>A ENSP00000473138.1:p.Ser1014=
NM_000435.2:c.3201C>A NP_000426.2:p.Ser1067=
XM_005259924.3:c.3045C>A XP_005259981.1:p.Ser1015=
XM_005259924.4:c.3045C>A XP_005259981.1:p.Ser1015=
NM_000435.3:c.3201C>A MANE Select NP_000426.2:p.Ser1067=