Canonical Allele Identifier: CA412728048
Community Standard Title: NM_000531.6(OTC):c.1028C>G (p.Thr343Arg)
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38421045C>G , CM000685.2:g.38421045C>G GRCh38
NC_000023.10:g.38280298C>G , CM000685.1:g.38280298C>G GRCh37
NC_000023.9:g.38165242C>G NCBI36
NG_008471.1:g.73563C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000531.6:c.1028C>G MANE Select NP_000522.3:p.Thr343Arg
ENST00000039007.5:c.1028C>G MANE Select ENSP00000039007.4:p.Thr343Arg
NM_000531.5:c.1028C>G NP_000522.3:p.Thr343Arg
ENST00000039007.4:c.1028C>G ENSP00000039007.4:p.Thr343Arg
ENST00000465127.1:c.172-245076C>G ENSP00000417050.1:n.172-245076C>G
ENST00000643344.1:c.*778C>G ENSP00000496606.1:n.*778C>G
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