Canonical Allele Identifier: CA412723303
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs1180706085
MyVariant Identifiers: chrX:g.38260586G>A (hg19) chrX:g.38401333G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401333G>A , CM000685.2:g.38401333G>A GRCh38
NC_000023.10:g.38260586G>A , CM000685.1:g.38260586G>A GRCh37
NC_000023.9:g.38145530G>A NCBI36
NG_008471.1:g.53851G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.445G>A MANE Select ENSP00000039007.4:p.Asp149Asn
ENST00000643344.1:c.*195G>A ENSP00000496606.1:n.*195G>A
ENST00000039007.4:c.445G>A ENSP00000039007.4:p.Asp149Asn
ENST00000465127.1:c.172-264788G>A ENSP00000417050.1:n.172-264788G>A
ENST00000488812.1:n.482G>A
NM_000531.5:c.445G>A NP_000522.3:p.Asp149Asn
XM_017029556.1:c.445G>A XP_016885045.1:p.Asp149Asn
NM_000531.6:c.445G>A MANE Select NP_000522.3:p.Asp149Asn
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