Canonical Allele Identifier: CA412725315
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38262898A>C (hg19) chrX:g.38403645A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403645A>C , CM000685.2:g.38403645A>C GRCh38
NC_000023.10:g.38262898A>C , CM000685.1:g.38262898A>C GRCh37
NC_000023.9:g.38147842A>C NCBI36
NG_008471.1:g.56163A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.568A>C MANE Select ENSP00000039007.4:p.Thr190Pro
ENST00000643344.1:c.*318A>C ENSP00000496606.1:n.*318A>C
ENST00000039007.4:c.568A>C ENSP00000039007.4:p.Thr190Pro
ENST00000465127.1:c.172-262476A>C ENSP00000417050.1:n.172-262476A>C
ENST00000488812.1:n.605A>C
NM_000531.5:c.568A>C NP_000522.3:p.Thr190Pro
XM_017029556.1:c.568A>C XP_016885045.1:p.Thr190Pro
NM_000531.6:c.568A>C MANE Select NP_000522.3:p.Thr190Pro
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