Canonical Allele Identifier: CA412718616
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38381426C>G , CM000685.2:g.38381426C>G GRCh38
NC_000023.10:g.38240679C>G , CM000685.1:g.38240679C>G GRCh37
NC_000023.9:g.38125623C>G NCBI36
NG_008471.1:g.33944C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.383C>G MANE Select ENSP00000039007.4:p.Ala128Gly
ENST00000643344.1:c.*133C>G ENSP00000496606.1:n.*133C>G
ENST00000039007.4:c.383C>G ENSP00000039007.4:p.Ala128Gly
ENST00000465127.1:c.172-284695C>G ENSP00000417050.1:n.172-284695C>G
ENST00000488812.1:n.420C>G
NM_000531.5:c.383C>G NP_000522.3:p.Ala128Gly
XM_017029556.1:c.383C>G XP_016885045.1:p.Ala128Gly
NM_000531.6:c.383C>G MANE Select NP_000522.3:p.Ala128Gly