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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:
CA515642415
Gene: OTC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2134006
ClinVar RCV Id:
RCV003044714
MyVariant Identifiers:
chrX:g.38211953C>T (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.38352700C>T , CM000685.2:g.38352700C>T
GRCh38
NC_000023.10:g.38211953C>T , CM000685.1:g.38211953C>T
GRCh37
NC_000023.9:g.38096897C>T
NCBI36
NG_008471.1:g.5218C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000039007.5:c.4C>T
MANE Select
ENSP00000039007.4:p.Leu2=
ENST00000643344.1:c.4C>T
ENSP00000496606.1:p.Leu2=
ENST00000039007.4:c.4C>T
ENSP00000039007.4:p.Leu2=
ENST00000465127.1:c.172-313421C>T
ENSP00000417050.1:n.172-313421C>T
ENST00000488812.1:n.96C>T
NM_000531.5:c.4C>T
NP_000522.3:p.Leu2=
XM_017029556.1:c.4C>T
XP_016885045.1:p.Leu2=
NM_000531.6:c.4C>T
MANE Select
NP_000522.3:p.Leu2=
Search 100 bp 5'
Search 100 bp 3'