Canonical Allele Identifier: CA10385819
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs746363937
ExAC: X:38229128 C / T
gnomAD v2: X-38229128-C-T
gnomAD v4: X-38369875-C-T
MyVariant Identifiers: chrX:g.38229128C>T (hg19) chrX:g.38369875C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369875C>T , CM000685.2:g.38369875C>T GRCh38
NC_000023.10:g.38229128C>T , CM000685.1:g.38229128C>T GRCh37
NC_000023.9:g.38114072C>T NCBI36
NG_008471.1:g.22393C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.296C>T MANE Select ENSP00000039007.4:p.Thr99Ile
ENST00000643344.1:c.296C>T ENSP00000496606.1:p.Thr99Ile
ENST00000039007.4:c.296C>T ENSP00000039007.4:p.Thr99Ile
ENST00000465127.1:c.172-296246C>T ENSP00000417050.1:n.172-296246C>T
ENST00000488812.1:n.353+35C>T
NM_000531.5:c.296C>T NP_000522.3:p.Thr99Ile
XM_017029556.1:c.296C>T XP_016885045.1:p.Thr99Ile
NM_000531.6:c.296C>T MANE Select NP_000522.3:p.Thr99Ile
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