Canonical Allele Identifier: CA412723322
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38401334-A-G
MyVariant Identifiers: chrX:g.38260587A>G (hg19) chrX:g.38401334A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401334A>G , CM000685.2:g.38401334A>G GRCh38
NC_000023.10:g.38260587A>G , CM000685.1:g.38260587A>G GRCh37
NC_000023.9:g.38145531A>G NCBI36
NG_008471.1:g.53852A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.446A>G MANE Select ENSP00000039007.4:p.Asp149Gly
ENST00000643344.1:c.*196A>G ENSP00000496606.1:n.*196A>G
ENST00000039007.4:c.446A>G ENSP00000039007.4:p.Asp149Gly
ENST00000465127.1:c.172-264787A>G ENSP00000417050.1:n.172-264787A>G
ENST00000488812.1:n.483A>G
NM_000531.5:c.446A>G NP_000522.3:p.Asp149Gly
XM_017029556.1:c.446A>G XP_016885045.1:p.Asp149Gly
NM_000531.6:c.446A>G MANE Select NP_000522.3:p.Asp149Gly
Search 100 bp 5'
Search 100 bp 3'