Canonical Allele Identifier: CA412725470
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 529422
ClinVar RCV Id: RCV000634847
dbSNP Id: rs72558403
MyVariant Identifiers: chrX:g.38262923A>G (hg19) chrX:g.38403670A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403670A>G , CM000685.2:g.38403670A>G GRCh38
NC_000023.10:g.38262923A>G , CM000685.1:g.38262923A>G GRCh37
NC_000023.9:g.38147867A>G NCBI36
NG_008471.1:g.56188A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.593A>G MANE Select ENSP00000039007.4:p.Asn198Ser
ENST00000643344.1:c.*343A>G ENSP00000496606.1:n.*343A>G
ENST00000039007.4:c.593A>G ENSP00000039007.4:p.Asn198Ser
ENST00000465127.1:c.172-262451A>G ENSP00000417050.1:n.172-262451A>G
NM_000531.5:c.593A>G NP_000522.3:p.Asn198Ser
XM_017029556.1:c.593A>G XP_016885045.1:p.Asn198Ser
NM_000531.6:c.593A>G MANE Select NP_000522.3:p.Asn198Ser
Search 100 bp 5'
Search 100 bp 3'