Canonical Allele Identifier: CA10385945
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1937461
ClinVar RCV Id: RCV002642817
dbSNP Id: rs777210088
ExAC: X:38268274 T / G
gnomAD v2: X-38268274-T-G
gnomAD v3: X-38409021-T-G
gnomAD v4: X-38409021-T-G
MyVariant Identifiers: chrX:g.38268274T>G (hg19) chrX:g.38409021T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38409021T>G , CM000685.2:g.38409021T>G GRCh38
NC_000023.10:g.38268274T>G , CM000685.1:g.38268274T>G GRCh37
NC_000023.9:g.38153218T>G NCBI36
NG_008471.1:g.61539T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.863T>G MANE Select ENSP00000039007.4:p.Met288Arg
ENST00000643344.1:c.*613T>G ENSP00000496606.1:n.*613T>G
ENST00000039007.4:c.863T>G ENSP00000039007.4:p.Met288Arg
ENST00000465127.1:c.172-257100T>G ENSP00000417050.1:n.172-257100T>G
NM_000531.5:c.863T>G NP_000522.3:p.Met288Arg
XM_017029556.1:c.863T>G XP_016885045.1:p.Met288Arg
NM_000531.6:c.863T>G MANE Select NP_000522.3:p.Met288Arg
Search 100 bp 5'
Search 100 bp 3'