Canonical Allele Identifier: CA3065035853
Community Standard Title: NM_000531.6(OTC):c.271A= (p.Thr91=)
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369850A= , CM000685.2:g.38369850A= GRCh38
NC_000023.10:g.38229103A= , CM000685.1:g.38229103A= GRCh37
NC_000023.9:g.38114047A= NCBI36
NG_008471.1:g.22368A=

Transcript Alleles

HGVS Amino-acid Change
NM_000531.6:c.271A= MANE Select NP_000522.3:p.Thr91=
ENST00000039007.5:c.271A= MANE Select ENSP00000039007.4:p.Thr91=
NM_000531.5:c.271A= NP_000522.3:p.Thr91=
ENST00000039007.4:c.271A= ENSP00000039007.4:p.Thr91=
ENST00000465127.1:c.172-296271A= ENSP00000417050.1:n.172-296271A=
ENST00000488812.1:n.353+10A=
ENST00000643344.1:c.271A= ENSP00000496606.1:p.Thr91=
XM_017029556.1:c.271A= XP_016885045.1:p.Thr91=