Canonical Allele Identifier: CA509816474
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs2067393625
MyVariant Identifiers: chr20:g.10639240G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658592G>A , CM000682.2:g.10658592G>A GRCh38
NC_000020.10:g.10639240G>A , CM000682.1:g.10639240G>A GRCh37
NC_000020.9:g.10587240G>A NCBI36
NG_007496.1:g.20455C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.570C>T MANE Select ENSP00000254958.4:p.Tyr190=
ENST00000254958.9:c.570C>T ENSP00000254958.4:p.Tyr190=
ENST00000423891.6:n.436C>T
NM_000214.2:c.570C>T NP_000205.1:p.Tyr190=
NM_000214.3:c.570C>T MANE Select NP_000205.1:p.Tyr190=