Canonical Allele Identifier: CA506078428
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15297941G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187130G>T , CM000681.2:g.15187130G>T GRCh38
NC_000019.9:g.15297941G>T , CM000681.1:g.15297941G>T GRCh37
NC_000019.8:g.15158941G>T NCBI36
NG_009819.1:g.18852C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263388.7:c.1815C>A MANE Select ENSP00000263388.1:p.Leu605=
ENST00000263388.6:c.1815C>A ENSP00000263388.1:p.Leu605=
ENST00000601011.1:c.1812C>A ENSP00000473138.1:p.Leu604=
NM_000435.2:c.1815C>A NP_000426.2:p.Leu605=
XM_005259924.3:c.1815C>A XP_005259981.1:p.Leu605=
XM_005259924.4:c.1815C>A XP_005259981.1:p.Leu605=
NM_000435.3:c.1815C>A MANE Select NP_000426.2:p.Leu605=