Canonical Allele Identifier: CA412725918
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 2761120
ClinVar RCV Id: RCV003510149
MyVariant Identifiers: chrX:g.38262971A>G (hg19) chrX:g.38403718A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403718A>G , CM000685.2:g.38403718A>G GRCh38
NC_000023.10:g.38262971A>G , CM000685.1:g.38262971A>G GRCh37
NC_000023.9:g.38147915A>G NCBI36
NG_008471.1:g.56236A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.641A>G MANE Select ENSP00000039007.4:p.His214Arg
ENST00000643344.1:c.*391A>G ENSP00000496606.1:n.*391A>G
ENST00000039007.4:c.641A>G ENSP00000039007.4:p.His214Arg
ENST00000465127.1:c.172-262403A>G ENSP00000417050.1:n.172-262403A>G
NM_000531.5:c.641A>G NP_000522.3:p.His214Arg
XM_017029556.1:c.641A>G XP_016885045.1:p.His214Arg
NM_000531.6:c.641A>G MANE Select NP_000522.3:p.His214Arg
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Search 100 bp 3'