Canonical Allele Identifier: CA515643880
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38226544G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367291G>T , CM000685.2:g.38367291G>T GRCh38
NC_000023.10:g.38226544G>T , CM000685.1:g.38226544G>T GRCh37
NC_000023.9:g.38111488G>T NCBI36
NG_008471.1:g.19809G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.78G>T MANE Select ENSP00000039007.4:p.Arg26=
ENST00000643344.1:c.78G>T ENSP00000496606.1:p.Arg26=
ENST00000039007.4:c.78G>T ENSP00000039007.4:p.Arg26=
ENST00000465127.1:c.172-298830G>T ENSP00000417050.1:n.172-298830G>T
ENST00000488812.1:n.170G>T
NM_000531.5:c.78G>T NP_000522.3:p.Arg26=
XM_017029556.1:c.78G>T XP_016885045.1:p.Arg26=
NM_000531.6:c.78G>T MANE Select NP_000522.3:p.Arg26=