Canonical Allele Identifier: CA515642180
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1146346
ClinVar RCV Id: RCV001485514
dbSNP Id: rs2147345076
gnomAD v4: X-38408884-C-T
MyVariant Identifiers: chrX:g.38268137C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408884C>T , CM000685.2:g.38408884C>T GRCh38
NC_000023.10:g.38268137C>T , CM000685.1:g.38268137C>T GRCh37
NC_000023.9:g.38153081C>T NCBI36
NG_008471.1:g.61402C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.726C>T MANE Select ENSP00000039007.4:p.Thr242=
ENST00000643344.1:c.*476C>T ENSP00000496606.1:n.*476C>T
ENST00000039007.4:c.726C>T ENSP00000039007.4:p.Thr242=
ENST00000465127.1:c.172-257237C>T ENSP00000417050.1:n.172-257237C>T
NM_000531.5:c.726C>T NP_000522.3:p.Thr242=
XM_017029556.1:c.726C>T XP_016885045.1:p.Thr242=
NM_000531.6:c.726C>T MANE Select NP_000522.3:p.Thr242=
Search 100 bp 5'
Search 100 bp 3'