Canonical Allele Identifier: CA509659926
Gene: JAG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.10625605G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644957G>T , CM000682.2:g.10644957G>T GRCh38
NC_000020.10:g.10625605G>T , CM000682.1:g.10625605G>T GRCh37
NC_000020.9:g.10573605G>T NCBI36
NG_007496.1:g.34090C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2250C>A MANE Select ENSP00000254958.4:p.Pro750=
ENST00000617965.2:n.2839C>A
ENST00000254958.9:c.2250C>A ENSP00000254958.4:p.Pro750=
ENST00000423891.6:n.2116C>A
ENST00000488480.2:n.647C>A
NM_000214.2:c.2250C>A NP_000205.1:p.Pro750=
NM_000214.3:c.2250C>A MANE Select NP_000205.1:p.Pro750=