Canonical Allele Identifier: CA412722174
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs1461226043

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408880G>T , CM000685.2:g.38408880G>T GRCh38
NC_000023.10:g.38268133G>T , CM000685.1:g.38268133G>T GRCh37
NC_000023.9:g.38153077G>T NCBI36
NG_008471.1:g.61398G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.722G>T MANE Select ENSP00000039007.4:p.Gly241Val
ENST00000643344.1:c.*472G>T ENSP00000496606.1:n.*472G>T
ENST00000039007.4:c.722G>T ENSP00000039007.4:p.Gly241Val
ENST00000465127.1:c.172-257241G>T ENSP00000417050.1:n.172-257241G>T
NM_000531.5:c.722G>T NP_000522.3:p.Gly241Val
XM_017029556.1:c.722G>T XP_016885045.1:p.Gly241Val
NM_000531.6:c.722G>T MANE Select NP_000522.3:p.Gly241Val