Canonical Allele Identifier: CA515642237
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38268179A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408926A>C , CM000685.2:g.38408926A>C GRCh38
NC_000023.10:g.38268179A>C , CM000685.1:g.38268179A>C GRCh37
NC_000023.9:g.38153123A>C NCBI36
NG_008471.1:g.61444A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.768A>C MANE Select ENSP00000039007.4:p.Gly256=
ENST00000643344.1:c.*518A>C ENSP00000496606.1:n.*518A>C
ENST00000039007.4:c.768A>C ENSP00000039007.4:p.Gly256=
ENST00000465127.1:c.172-257195A>C ENSP00000417050.1:n.172-257195A>C
NM_000531.5:c.768A>C NP_000522.3:p.Gly256=
XM_017029556.1:c.768A>C XP_016885045.1:p.Gly256=
NM_000531.6:c.768A>C MANE Select NP_000522.3:p.Gly256=