×
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:
CA971500732
Gene: CYP1A2
HGNC
NCBI
Linked Data
dbSNP Id:
rs879367778
gnomAD v3:
15-74754601-C-CAA
gnomAD v4:
15-74754601-C-CAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74754613_74754614dup , CM000677.2:g.74754613_74754614dup
GRCh38
NC_000015.9:g.75046954_75046955dup , CM000677.1:g.75046954_75046955dup
GRCh37
NC_000015.8:g.72834007_72834008dup
NCBI36
NG_008431.1:g.37072_37073dup
NG_008431.2:g.37072_37073dup
NG_061543.1:g.10769_10770dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000343932.5:c.1254-178_1254-177dup
MANE Select
ENSP00000342007.4:n.1254-178_1254-177dup
ENST00000343932.4:c.1254-178_1254-177dup
ENSP00000342007.4:n.1254-178_1254-177dup
NM_000761.4:c.1254-178_1254-177dup
NP_000752.2:n.1254-178_1254-177dup
NM_000761.5:c.1254-178_1254-177dup
MANE Select
NP_000752.2:n.1254-178_1254-177dup
Search 100 bp 5'
Search 100 bp 3'