Canonical Allele Identifier: CA412724008
Community Standard Title: NM_000531.6(OTC):c.523G>T (p.Asp175Tyr)
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401411G>T , CM000685.2:g.38401411G>T GRCh38
NC_000023.10:g.38260664G>T , CM000685.1:g.38260664G>T GRCh37
NC_000023.9:g.38145608G>T NCBI36
NG_008471.1:g.53929G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000531.6:c.523G>T MANE Select NP_000522.3:p.Asp175Tyr
ENST00000039007.5:c.523G>T MANE Select ENSP00000039007.4:p.Asp175Tyr
NM_000531.5:c.523G>T NP_000522.3:p.Asp175Tyr
ENST00000039007.4:c.523G>T ENSP00000039007.4:p.Asp175Tyr
ENST00000465127.1:c.172-264710G>T ENSP00000417050.1:n.172-264710G>T
ENST00000488812.1:n.560G>T
ENST00000643344.1:c.*273G>T ENSP00000496606.1:n.*273G>T
XM_017029556.1:c.523G>T XP_016885045.1:p.Asp175Tyr