Canonical Allele Identifier: CA327917620
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs34918567
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38421038dup , CM000685.2:g.38421038dup GRCh38
NC_000023.10:g.38280291dup , CM000685.1:g.38280291dup GRCh37
NC_000023.9:g.38165235dup NCBI36
NG_008471.1:g.73556dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.1021dup MANE Select ENSP00000039007.4:p.Leu341ProfsTer13
ENST00000643344.1:c.*771dup ENSP00000496606.1:n.*771dup
ENST00000039007.4:c.1021dup ENSP00000039007.4:p.Leu341ProfsTer13
ENST00000465127.1:c.172-245083dup ENSP00000417050.1:n.172-245083dup
NM_000531.5:c.1021dup NP_000522.3:p.Leu341ProfsTer13
NM_000531.6:c.1021dup MANE Select NP_000522.3:p.Leu341ProfsTer13
Search 100 bp 5'
Search 100 bp 3'