Canonical Allele Identifier: CA211702
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97175
ClinVar RCV Id: RCV000083408 RCV000148721 RCV000702655 RCV003323392
dbSNP Id: rs72554356
ExAC: X:38240670 C / T
gnomAD v2: X-38240670-C-T
gnomAD v3: X-38381417-C-T
gnomAD v4: X-38381417-C-T
MyVariant Identifiers: chrX:g.38240670C>T (hg19) chrX:g.38381417C>T (hg38)
PubMed: PMID:8807340 PMID:25637381
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38381417C>T , CM000685.2:g.38381417C>T GRCh38
NC_000023.10:g.38240670C>T , CM000685.1:g.38240670C>T GRCh37
NC_000023.9:g.38125614C>T NCBI36
NG_008471.1:g.33935C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.374C>T MANE Select ENSP00000039007.4:p.Thr125Met
ENST00000643344.1:c.*124C>T ENSP00000496606.1:n.*124C>T
ENST00000039007.4:c.374C>T ENSP00000039007.4:p.Thr125Met
ENST00000465127.1:c.172-284704C>T ENSP00000417050.1:n.172-284704C>T
ENST00000488812.1:n.411C>T
NM_000531.5:c.374C>T NP_000522.3:p.Thr125Met
XM_017029556.1:c.374C>T XP_016885045.1:p.Thr125Met
NM_000531.6:c.374C>T MANE Select NP_000522.3:p.Thr125Met
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