Canonical Allele Identifier: CA412716420
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367411G>T , CM000685.2:g.38367411G>T GRCh38
NC_000023.10:g.38226664G>T , CM000685.1:g.38226664G>T GRCh37
NC_000023.9:g.38111608G>T NCBI36
NG_008471.1:g.19929G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.198G>T MANE Select ENSP00000039007.4:p.Arg66Ser
ENST00000643344.1:c.198G>T ENSP00000496606.1:p.Arg66Ser
ENST00000039007.4:c.198G>T ENSP00000039007.4:p.Arg66Ser
ENST00000465127.1:c.172-298710G>T ENSP00000417050.1:n.172-298710G>T
ENST00000488812.1:n.290G>T
NM_000531.5:c.198G>T NP_000522.3:p.Arg66Ser
XM_017029556.1:c.198G>T XP_016885045.1:p.Arg66Ser
NM_000531.6:c.198G>T MANE Select NP_000522.3:p.Arg66Ser