Canonical Allele Identifier: CA412722325
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38268145T>G (hg19) chrX:g.38408892T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408892T>G , CM000685.2:g.38408892T>G GRCh38
NC_000023.10:g.38268145T>G , CM000685.1:g.38268145T>G GRCh37
NC_000023.9:g.38153089T>G NCBI36
NG_008471.1:g.61410T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.734T>G MANE Select ENSP00000039007.4:p.Leu245Trp
ENST00000643344.1:c.*484T>G ENSP00000496606.1:n.*484T>G
ENST00000039007.4:c.734T>G ENSP00000039007.4:p.Leu245Trp
ENST00000465127.1:c.172-257229T>G ENSP00000417050.1:n.172-257229T>G
NM_000531.5:c.734T>G NP_000522.3:p.Leu245Trp
XM_017029556.1:c.734T>G XP_016885045.1:p.Leu245Trp
NM_000531.6:c.734T>G MANE Select NP_000522.3:p.Leu245Trp
Search 100 bp 5'
Search 100 bp 3'