×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA408239258
Gene: JAG1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr20:g.10633146T>C (hg19)
chr20:g.10652498T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.10652498T>C , CM000682.2:g.10652498T>C
GRCh38
NC_000020.10:g.10633146T>C , CM000682.1:g.10633146T>C
GRCh37
NC_000020.9:g.10581146T>C
NCBI36
NG_007496.1:g.26549A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000254958.10:c.856A>G
MANE Select
ENSP00000254958.4:p.Thr286Ala
ENST00000617965.2:n.225A>G
ENST00000254958.9:c.856A>G
ENSP00000254958.4:p.Thr286Ala
ENST00000423891.6:n.722A>G
ENST00000617965.1:n.225A>G
NM_000214.2:c.856A>G
NP_000205.1:p.Thr286Ala
NM_000214.3:c.856A>G
MANE Select
NP_000205.1:p.Thr286Ala
Search 100 bp 5'
Search 100 bp 3'