Canonical Allele Identifier: CA412725688
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411884A>C , CM000685.2:g.38411884A>C GRCh38
NC_000023.10:g.38271137A>C , CM000685.1:g.38271137A>C GRCh37
NC_000023.9:g.38156081A>C NCBI36
NG_008471.1:g.64402A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.890A>C MANE Select ENSP00000039007.4:p.Asp297Ala
ENST00000643344.1:c.*640A>C ENSP00000496606.1:n.*640A>C
ENST00000039007.4:c.890A>C ENSP00000039007.4:p.Asp297Ala
ENST00000465127.1:c.172-254237A>C ENSP00000417050.1:n.172-254237A>C
NM_000531.5:c.890A>C NP_000522.3:p.Asp297Ala
NM_000531.6:c.890A>C MANE Select NP_000522.3:p.Asp297Ala