Canonical Allele Identifier: CA412728052
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38421047G>T , CM000685.2:g.38421047G>T GRCh38
NC_000023.10:g.38280300G>T , CM000685.1:g.38280300G>T GRCh37
NC_000023.9:g.38165244G>T NCBI36
NG_008471.1:g.73565G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.1030G>T MANE Select ENSP00000039007.4:p.Asp344Tyr
ENST00000643344.1:c.*780G>T ENSP00000496606.1:n.*780G>T
ENST00000039007.4:c.1030G>T ENSP00000039007.4:p.Asp344Tyr
ENST00000465127.1:c.172-245074G>T ENSP00000417050.1:n.172-245074G>T
NM_000531.5:c.1030G>T NP_000522.3:p.Asp344Tyr
NM_000531.6:c.1030G>T MANE Select NP_000522.3:p.Asp344Tyr