Canonical Allele Identifier: CA515642373
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1570175
ClinVar RCV Id: RCV002215177
dbSNP Id: rs2147345272
gnomAD v4: X-38409010-C-T
MyVariant Identifiers: chrX:g.38268263C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38409010C>T , CM000685.2:g.38409010C>T GRCh38
NC_000023.10:g.38268263C>T , CM000685.1:g.38268263C>T GRCh37
NC_000023.9:g.38153207C>T NCBI36
NG_008471.1:g.61528C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.852C>T MANE Select ENSP00000039007.4:p.Tyr284=
ENST00000643344.1:c.*602C>T ENSP00000496606.1:n.*602C>T
ENST00000039007.4:c.852C>T ENSP00000039007.4:p.Tyr284=
ENST00000465127.1:c.172-257111C>T ENSP00000417050.1:n.172-257111C>T
NM_000531.5:c.852C>T NP_000522.3:p.Tyr284=
XM_017029556.1:c.852C>T XP_016885045.1:p.Tyr284=
NM_000531.6:c.852C>T MANE Select NP_000522.3:p.Tyr284=
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