Canonical Allele Identifier: CA224737
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97288
ClinVar RCV Id: RCV000083532
dbSNP Id: rs67839036

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408741G>A , CM000685.2:g.38408741G>A GRCh38
NC_000023.10:g.38267994G>A , CM000685.1:g.38267994G>A GRCh37
NC_000023.9:g.38152938G>A NCBI36
NG_008471.1:g.61259G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.664-1G>A MANE Select ENSP00000039007.4:n.664-1G>A
ENST00000643344.1:c.*414-1G>A ENSP00000496606.1:n.*414-1G>A
ENST00000039007.4:c.664-1G>A ENSP00000039007.4:n.664-1G>A
ENST00000465127.1:c.172-257380G>A ENSP00000417050.1:n.172-257380G>A
NM_000531.5:c.664-1G>A NP_000522.3:n.664-1G>A
XM_017029556.1:c.664-1G>A XP_016885045.1:n.664-1G>A
NM_000531.6:c.664-1G>A MANE Select NP_000522.3:n.664-1G>A