Canonical Allele Identifier: CA515650428
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38401302-A-T
MyVariant Identifiers: chrX:g.38260555A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401302A>T , CM000685.2:g.38401302A>T GRCh38
NC_000023.10:g.38260555A>T , CM000685.1:g.38260555A>T GRCh37
NC_000023.9:g.38145499A>T NCBI36
NG_008471.1:g.53820A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.414A>T MANE Select ENSP00000039007.4:p.Val138=
ENST00000643344.1:c.*164A>T ENSP00000496606.1:n.*164A>T
ENST00000039007.4:c.414A>T ENSP00000039007.4:p.Val138=
ENST00000465127.1:c.172-264819A>T ENSP00000417050.1:n.172-264819A>T
ENST00000488812.1:n.451A>T
NM_000531.5:c.414A>T NP_000522.3:p.Val138=
XM_017029556.1:c.414A>T XP_016885045.1:p.Val138=
NM_000531.6:c.414A>T MANE Select NP_000522.3:p.Val138=
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