Canonical Allele Identifier: CA10385956
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 2984559
ClinVar RCV Id: RCV003845702
dbSNP Id: rs374556289
ExAC: X:38271107 C / T
gnomAD v2: X-38271107-C-T
MyVariant Identifiers: chrX:g.38271107C>T (hg19) chrX:g.38411854C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411854C>T , CM000685.2:g.38411854C>T GRCh38
NC_000023.10:g.38271107C>T , CM000685.1:g.38271107C>T GRCh37
NC_000023.9:g.38156051C>T NCBI36
NG_008471.1:g.64372C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.868-8C>T MANE Select ENSP00000039007.4:n.868-8C>T
ENST00000643344.1:c.*618-8C>T ENSP00000496606.1:n.*618-8C>T
ENST00000039007.4:c.868-8C>T ENSP00000039007.4:n.868-8C>T
ENST00000465127.1:c.172-254267C>T ENSP00000417050.1:n.172-254267C>T
NM_000531.5:c.868-8C>T NP_000522.3:n.868-8C>T
XM_017029556.1:c.929C>T XP_016885045.1:p.Ser310Phe
NM_000531.6:c.868-8C>T MANE Select NP_000522.3:n.868-8C>T
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