Canonical Allele Identifier: CA412725580
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411871G>C , CM000685.2:g.38411871G>C GRCh38
NC_000023.10:g.38271124G>C , CM000685.1:g.38271124G>C GRCh37
NC_000023.9:g.38156068G>C NCBI36
NG_008471.1:g.64389G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.877G>C MANE Select ENSP00000039007.4:p.Val293Leu
ENST00000643344.1:c.*627G>C ENSP00000496606.1:n.*627G>C
ENST00000039007.4:c.877G>C ENSP00000039007.4:p.Val293Leu
ENST00000465127.1:c.172-254250G>C ENSP00000417050.1:n.172-254250G>C
NM_000531.5:c.877G>C NP_000522.3:p.Val293Leu
XM_017029556.1:c.*10G>C XP_016885045.1:n.*10G>C
NM_000531.6:c.877G>C MANE Select NP_000522.3:p.Val293Leu