Canonical Allele Identifier: CA515644287
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38226641C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367388C>T , CM000685.2:g.38367388C>T GRCh38
NC_000023.10:g.38226641C>T , CM000685.1:g.38226641C>T GRCh37
NC_000023.9:g.38111585C>T NCBI36
NG_008471.1:g.19906C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.175C>T MANE Select ENSP00000039007.4:p.Leu59=
ENST00000643344.1:c.175C>T ENSP00000496606.1:p.Leu59=
ENST00000039007.4:c.175C>T ENSP00000039007.4:p.Leu59=
ENST00000465127.1:c.172-298733C>T ENSP00000417050.1:n.172-298733C>T
ENST00000488812.1:n.267C>T
NM_000531.5:c.175C>T NP_000522.3:p.Leu59=
XM_017029556.1:c.175C>T XP_016885045.1:p.Leu59=
NM_000531.6:c.175C>T MANE Select NP_000522.3:p.Leu59=
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