Canonical Allele Identifier: CA2651919414
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673432C>G , CM000682.2:g.10673432C>G GRCh38
NC_000020.10:g.10654080C>G , CM000682.1:g.10654080C>G GRCh37
NC_000020.9:g.10602080C>G NCBI36
NG_007496.1:g.5615G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.81+18G>C MANE Select ENSP00000254958.4:n.81+18G>C
ENST00000254958.9:c.81+18G>C ENSP00000254958.4:n.81+18G>C
NM_000214.2:c.81+18G>C NP_000205.1:n.81+18G>C
NM_000214.3:c.81+18G>C MANE Select NP_000205.1:n.81+18G>C