×
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:
CA412712777
Gene: OTC
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrX:g.38211951T>G (hg19)
chrX:g.38352698T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.38352698T>G , CM000685.2:g.38352698T>G
GRCh38
NC_000023.10:g.38211951T>G , CM000685.1:g.38211951T>G
GRCh37
NC_000023.9:g.38096895T>G
NCBI36
NG_008471.1:g.5216T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000039007.5:c.2T>G
MANE Select
ENSP00000039007.4:p.Met1Arg
ENST00000643344.1:c.2T>G
ENSP00000496606.1:p.Met1Arg
ENST00000039007.4:c.2T>G
ENSP00000039007.4:p.Met1Arg
ENST00000465127.1:c.172-313423T>G
ENSP00000417050.1:n.172-313423T>G
ENST00000488812.1:n.94T>G
NM_000531.5:c.2T>G
NP_000522.3:p.Met1Arg
XM_017029556.1:c.2T>G
XP_016885045.1:p.Met1Arg
NM_000531.6:c.2T>G
MANE Select
NP_000522.3:p.Met1Arg
Search 100 bp 5'
Search 100 bp 3'