Canonical Allele Identifier: CA10385832
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 256368
ClinVar RCV Id: RCV000253036 RCV001610581 RCV003765503
dbSNP Id: rs5917586
ExAC: X:38240577 C / T
gnomAD v2: X-38240577-C-T
gnomAD v4: X-38381324-C-T
MyVariant Identifiers: chrX:g.38240577C>T (hg19) chrX:g.38240577_38240578delinsTT (hg19) chrX:g.38240577_38240579delinsTTT (hg19) chrX:g.38381324C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38381324C>T , CM000685.2:g.38381324C>T GRCh38
NC_000023.10:g.38240577C>T , CM000685.1:g.38240577C>T GRCh37
NC_000023.9:g.38125521C>T NCBI36
NG_008471.1:g.33842C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.299-18C>T MANE Select ENSP00000039007.4:n.299-18C>T
ENST00000643344.1:c.*49-18C>T ENSP00000496606.1:n.*49-18C>T
ENST00000039007.4:c.299-18C>T ENSP00000039007.4:n.299-18C>T
ENST00000465127.1:c.172-284797C>T ENSP00000417050.1:n.172-284797C>T
ENST00000488812.1:n.354-36C>T
NM_000531.5:c.299-18C>T NP_000522.3:n.299-18C>T
XM_017029556.1:c.299-18C>T XP_016885045.1:n.299-18C>T
NM_000531.6:c.299-18C>T MANE Select NP_000522.3:n.299-18C>T
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