Canonical Allele Identifier: CA515643980
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38226577G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367324G>T , CM000685.2:g.38367324G>T GRCh38
NC_000023.10:g.38226577G>T , CM000685.1:g.38226577G>T GRCh37
NC_000023.9:g.38111521G>T NCBI36
NG_008471.1:g.19842G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.111G>T MANE Select ENSP00000039007.4:p.Leu37=
ENST00000643344.1:c.111G>T ENSP00000496606.1:p.Leu37=
ENST00000039007.4:c.111G>T ENSP00000039007.4:p.Leu37=
ENST00000465127.1:c.172-298797G>T ENSP00000417050.1:n.172-298797G>T
ENST00000488812.1:n.203G>T
NM_000531.5:c.111G>T NP_000522.3:p.Leu37=
XM_017029556.1:c.111G>T XP_016885045.1:p.Leu37=
NM_000531.6:c.111G>T MANE Select NP_000522.3:p.Leu37=