Canonical Allele Identifier: CA515642218
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38268164G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408911G>A , CM000685.2:g.38408911G>A GRCh38
NC_000023.10:g.38268164G>A , CM000685.1:g.38268164G>A GRCh37
NC_000023.9:g.38153108G>A NCBI36
NG_008471.1:g.61429G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.753G>A MANE Select ENSP00000039007.4:p.Leu251=
ENST00000643344.1:c.*503G>A ENSP00000496606.1:n.*503G>A
ENST00000039007.4:c.753G>A ENSP00000039007.4:p.Leu251=
ENST00000465127.1:c.172-257210G>A ENSP00000417050.1:n.172-257210G>A
NM_000531.5:c.753G>A NP_000522.3:p.Leu251=
XM_017029556.1:c.753G>A XP_016885045.1:p.Leu251=
NM_000531.6:c.753G>A MANE Select NP_000522.3:p.Leu251=