Canonical Allele Identifier: CA412723061
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38260554T>C (hg19) chrX:g.38401301T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401301T>C , CM000685.2:g.38401301T>C GRCh38
NC_000023.10:g.38260554T>C , CM000685.1:g.38260554T>C GRCh37
NC_000023.9:g.38145498T>C NCBI36
NG_008471.1:g.53819T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.413T>C MANE Select ENSP00000039007.4:p.Val138Ala
ENST00000643344.1:c.*163T>C ENSP00000496606.1:n.*163T>C
ENST00000039007.4:c.413T>C ENSP00000039007.4:p.Val138Ala
ENST00000465127.1:c.172-264820T>C ENSP00000417050.1:n.172-264820T>C
ENST00000488812.1:n.450T>C
NM_000531.5:c.413T>C NP_000522.3:p.Val138Ala
XM_017029556.1:c.413T>C XP_016885045.1:p.Val138Ala
NM_000531.6:c.413T>C MANE Select NP_000522.3:p.Val138Ala
Search 100 bp 5'
Search 100 bp 3'