Canonical Allele Identifier: CA412728029
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38421033T>A , CM000685.2:g.38421033T>A GRCh38
NC_000023.10:g.38280286T>A , CM000685.1:g.38280286T>A GRCh37
NC_000023.9:g.38165230T>A NCBI36
NG_008471.1:g.73551T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.1016T>A MANE Select ENSP00000039007.4:p.Val339Glu
ENST00000643344.1:c.*766T>A ENSP00000496606.1:n.*766T>A
ENST00000039007.4:c.1016T>A ENSP00000039007.4:p.Val339Glu
ENST00000465127.1:c.172-245088T>A ENSP00000417050.1:n.172-245088T>A
NM_000531.5:c.1016T>A NP_000522.3:p.Val339Glu
NM_000531.6:c.1016T>A MANE Select NP_000522.3:p.Val339Glu