Canonical Allele Identifier: CA412722460
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38268155T>G (hg19) chrX:g.38408902T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408902T>G , CM000685.2:g.38408902T>G GRCh38
NC_000023.10:g.38268155T>G , CM000685.1:g.38268155T>G GRCh37
NC_000023.9:g.38153099T>G NCBI36
NG_008471.1:g.61420T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.744T>G MANE Select ENSP00000039007.4:p.Asn248Lys
ENST00000643344.1:c.*494T>G ENSP00000496606.1:n.*494T>G
ENST00000039007.4:c.744T>G ENSP00000039007.4:p.Asn248Lys
ENST00000465127.1:c.172-257219T>G ENSP00000417050.1:n.172-257219T>G
NM_000531.5:c.744T>G NP_000522.3:p.Asn248Lys
XM_017029556.1:c.744T>G XP_016885045.1:p.Asn248Lys
NM_000531.6:c.744T>G MANE Select NP_000522.3:p.Asn248Lys
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