Canonical Allele Identifier: CA515650460
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38260594G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401341G>C , CM000685.2:g.38401341G>C GRCh38
NC_000023.10:g.38260594G>C , CM000685.1:g.38260594G>C GRCh37
NC_000023.9:g.38145538G>C NCBI36
NG_008471.1:g.53859G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.453G>C MANE Select ENSP00000039007.4:p.Leu151=
ENST00000643344.1:c.*203G>C ENSP00000496606.1:n.*203G>C
ENST00000039007.4:c.453G>C ENSP00000039007.4:p.Leu151=
ENST00000465127.1:c.172-264780G>C ENSP00000417050.1:n.172-264780G>C
ENST00000488812.1:n.490G>C
NM_000531.5:c.453G>C NP_000522.3:p.Leu151=
XM_017029556.1:c.453G>C XP_016885045.1:p.Leu151=
NM_000531.6:c.453G>C MANE Select NP_000522.3:p.Leu151=
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