Canonical Allele Identifier: CA515642270
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38408944-A-G
MyVariant Identifiers: chrX:g.38268197A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408944A>G , CM000685.2:g.38408944A>G GRCh38
NC_000023.10:g.38268197A>G , CM000685.1:g.38268197A>G GRCh37
NC_000023.9:g.38153141A>G NCBI36
NG_008471.1:g.61462A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.786A>G MANE Select ENSP00000039007.4:p.Thr262=
ENST00000643344.1:c.*536A>G ENSP00000496606.1:n.*536A>G
ENST00000039007.4:c.786A>G ENSP00000039007.4:p.Thr262=
ENST00000465127.1:c.172-257177A>G ENSP00000417050.1:n.172-257177A>G
NM_000531.5:c.786A>G NP_000522.3:p.Thr262=
XM_017029556.1:c.786A>G XP_016885045.1:p.Thr262=
NM_000531.6:c.786A>G MANE Select NP_000522.3:p.Thr262=
Search 100 bp 5'
Search 100 bp 3'