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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
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Canonical Allele Identifier:
CA412712791
Gene: OTC
HGNC
NCBI
Linked Data
gnomAD v4:
X-38352700-C-A
MyVariant Identifiers:
chrX:g.38211953C>A (hg19)
chrX:g.38352700C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.38352700C>A , CM000685.2:g.38352700C>A
GRCh38
NC_000023.10:g.38211953C>A , CM000685.1:g.38211953C>A
GRCh37
NC_000023.9:g.38096897C>A
NCBI36
NG_008471.1:g.5218C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000039007.5:c.4C>A
MANE Select
ENSP00000039007.4:p.Leu2Met
ENST00000643344.1:c.4C>A
ENSP00000496606.1:p.Leu2Met
ENST00000039007.4:c.4C>A
ENSP00000039007.4:p.Leu2Met
ENST00000465127.1:c.172-313421C>A
ENSP00000417050.1:n.172-313421C>A
ENST00000488812.1:n.96C>A
NM_000531.5:c.4C>A
NP_000522.3:p.Leu2Met
XM_017029556.1:c.4C>A
XP_016885045.1:p.Leu2Met
NM_000531.6:c.4C>A
MANE Select
NP_000522.3:p.Leu2Met
Search 100 bp 5'
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