Canonical Allele Identifier: CA412726544
Community Standard Title: NM_000531.6(OTC):c.961T>C (p.Ser321Pro)
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411955T>C , CM000685.2:g.38411955T>C GRCh38
NC_000023.10:g.38271208T>C , CM000685.1:g.38271208T>C GRCh37
NC_000023.9:g.38156152T>C NCBI36
NG_008471.1:g.64473T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000531.6:c.961T>C MANE Select NP_000522.3:p.Ser321Pro
ENST00000039007.5:c.961T>C MANE Select ENSP00000039007.4:p.Ser321Pro
NM_000531.5:c.961T>C NP_000522.3:p.Ser321Pro
ENST00000039007.4:c.961T>C ENSP00000039007.4:p.Ser321Pro
ENST00000465127.1:c.172-254166T>C ENSP00000417050.1:n.172-254166T>C
ENST00000643344.1:c.*711T>C ENSP00000496606.1:n.*711T>C
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