Canonical Allele Identifier: CA2695233287
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367315dup , CM000685.2:g.38367315dup GRCh38
NC_000023.10:g.38226568dup , CM000685.1:g.38226568dup GRCh37
NC_000023.9:g.38111512dup NCBI36
NG_008471.1:g.19833dup

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.102dup MANE Select ENSP00000039007.4:p.Val35SerfsTer7
ENST00000643344.1:c.102dup ENSP00000496606.1:p.Val35SerfsTer7
ENST00000039007.4:c.102dup ENSP00000039007.4:p.Val35SerfsTer7
ENST00000465127.1:c.172-298806dup ENSP00000417050.1:n.172-298806dup
ENST00000488812.1:n.194dup
NM_000531.5:c.102dup NP_000522.3:p.Val35SerfsTer7
XM_017029556.1:c.102dup XP_016885045.1:p.Val35SerfsTer7
NM_000531.6:c.102dup MANE Select NP_000522.3:p.Val35SerfsTer7
Search 100 bp 5'
Search 100 bp 3'