Canonical Allele Identifier: CA515643956
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38226568A>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367315A>G , CM000685.2:g.38367315A>G GRCh38
NC_000023.10:g.38226568A>G , CM000685.1:g.38226568A>G GRCh37
NC_000023.9:g.38111512A>G NCBI36
NG_008471.1:g.19833A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.102A>G MANE Select ENSP00000039007.4:p.Lys34=
ENST00000643344.1:c.102A>G ENSP00000496606.1:p.Lys34=
ENST00000039007.4:c.102A>G ENSP00000039007.4:p.Lys34=
ENST00000465127.1:c.172-298806A>G ENSP00000417050.1:n.172-298806A>G
ENST00000488812.1:n.194A>G
NM_000531.5:c.102A>G NP_000522.3:p.Lys34=
XM_017029556.1:c.102A>G XP_016885045.1:p.Lys34=
NM_000531.6:c.102A>G MANE Select NP_000522.3:p.Lys34=
Search 100 bp 5'
Search 100 bp 3'