Canonical Allele Identifier: CA2539751505
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 3020595
ClinVar RCV Id: RCV003879754
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408865A>C , CM000685.2:g.38408865A>C GRCh38
NC_000023.10:g.38268118A>C , CM000685.1:g.38268118A>C GRCh37
NC_000023.9:g.38153062A>C NCBI36
NG_008471.1:g.61383A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.718-11A>C MANE Select ENSP00000039007.4:n.718-11A>C
ENST00000643344.1:c.*468-11A>C ENSP00000496606.1:n.*468-11A>C
ENST00000039007.4:c.718-11A>C ENSP00000039007.4:n.718-11A>C
ENST00000465127.1:c.172-257256A>C ENSP00000417050.1:n.172-257256A>C
NM_000531.5:c.718-11A>C NP_000522.3:n.718-11A>C
XM_017029556.1:c.718-11A>C XP_016885045.1:n.718-11A>C
NM_000531.6:c.718-11A>C MANE Select NP_000522.3:n.718-11A>C
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