×
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:
CA2629503724
Gene: CYP1A2
HGNC
NCBI
Linked Data
gnomAD v4:
15-74748976-G-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74748976G>T , CM000677.2:g.74748976G>T
GRCh38
NC_000015.9:g.75041317G>T , CM000677.1:g.75041317G>T
GRCh37
NC_000015.8:g.72828370G>T
NCBI36
NG_008431.1:g.31435G>T
NG_008431.2:g.31435G>T
NG_061543.1:g.5132G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000343932.5:c.-10+79G>T
MANE Select
ENSP00000342007.4:n.-10+79G>T
ENST00000343932.4:c.-10+79G>T
ENSP00000342007.4:n.-10+79G>T
NM_000761.4:c.-10+79G>T
NP_000752.2:n.-10+79G>T
NM_000761.5:c.-10+79G>T
MANE Select
NP_000752.2:n.-10+79G>T
Search 100 bp 5'
Search 100 bp 3'