Canonical Allele Identifier: CA515642185
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38268143G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408890G>A , CM000685.2:g.38408890G>A GRCh38
NC_000023.10:g.38268143G>A , CM000685.1:g.38268143G>A GRCh37
NC_000023.9:g.38153087G>A NCBI36
NG_008471.1:g.61408G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.732G>A MANE Select ENSP00000039007.4:p.Leu244=
ENST00000643344.1:c.*482G>A ENSP00000496606.1:n.*482G>A
ENST00000039007.4:c.732G>A ENSP00000039007.4:p.Leu244=
ENST00000465127.1:c.172-257231G>A ENSP00000417050.1:n.172-257231G>A
NM_000531.5:c.732G>A NP_000522.3:p.Leu244=
XM_017029556.1:c.732G>A XP_016885045.1:p.Leu244=
NM_000531.6:c.732G>A MANE Select NP_000522.3:p.Leu244=