Canonical Allele Identifier: CA10385936
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 368260
ClinVar RCV Id: RCV000279943 RCV000420359 RCV002317877
dbSNP Id: rs36005267
ExAC: X:38268162 T / C
gnomAD v2: X-38268162-T-C
gnomAD v3: X-38408909-T-C
gnomAD v4: X-38408909-T-C
MyVariant Identifiers: chrX:g.38268162T>C (hg19) chrX:g.38408909T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408909T>C , CM000685.2:g.38408909T>C GRCh38
NC_000023.10:g.38268162T>C , CM000685.1:g.38268162T>C GRCh37
NC_000023.9:g.38153106T>C NCBI36
NG_008471.1:g.61427T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.751T>C MANE Select ENSP00000039007.4:p.Leu251=
ENST00000643344.1:c.*501T>C ENSP00000496606.1:n.*501T>C
ENST00000039007.4:c.751T>C ENSP00000039007.4:p.Leu251=
ENST00000465127.1:c.172-257212T>C ENSP00000417050.1:n.172-257212T>C
NM_000531.5:c.751T>C NP_000522.3:p.Leu251=
XM_017029556.1:c.751T>C XP_016885045.1:p.Leu251=
NM_000531.6:c.751T>C MANE Select NP_000522.3:p.Leu251=
Search 100 bp 5'
Search 100 bp 3'