Canonical Allele Identifier: CA408239937
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658491C>A , CM000682.2:g.10658491C>A GRCh38
NC_000020.10:g.10639139C>A , CM000682.1:g.10639139C>A GRCh37
NC_000020.9:g.10587139C>A NCBI36
NG_007496.1:g.20556G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.671G>T MANE Select ENSP00000254958.4:p.Trp224Leu
ENST00000254958.9:c.671G>T ENSP00000254958.4:p.Trp224Leu
ENST00000423891.6:n.537G>T
NM_000214.2:c.671G>T NP_000205.1:p.Trp224Leu
NM_000214.3:c.671G>T MANE Select NP_000205.1:p.Trp224Leu