Canonical Allele Identifier: CA515642693
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38271148T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411895T>C , CM000685.2:g.38411895T>C GRCh38
NC_000023.10:g.38271148T>C , CM000685.1:g.38271148T>C GRCh37
NC_000023.9:g.38156092T>C NCBI36
NG_008471.1:g.64413T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.901T>C MANE Select ENSP00000039007.4:p.Leu301=
ENST00000643344.1:c.*651T>C ENSP00000496606.1:n.*651T>C
ENST00000039007.4:c.901T>C ENSP00000039007.4:p.Leu301=
ENST00000465127.1:c.172-254226T>C ENSP00000417050.1:n.172-254226T>C
NM_000531.5:c.901T>C NP_000522.3:p.Leu301=
NM_000531.6:c.901T>C MANE Select NP_000522.3:p.Leu301=
Search 100 bp 5'
Search 100 bp 3'