Canonical Allele Identifier: CA224507
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97138
dbSNP Id: rs72554329

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369810G>T , CM000685.2:g.38369810G>T GRCh38
NC_000023.10:g.38229063G>T , CM000685.1:g.38229063G>T GRCh37
NC_000023.9:g.38114007G>T NCBI36
NG_008471.1:g.22328G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.231G>T MANE Select ENSP00000039007.4:p.Leu77Phe
ENST00000643344.1:c.231G>T ENSP00000496606.1:p.Leu77Phe
ENST00000039007.4:c.231G>T ENSP00000039007.4:p.Leu77Phe
ENST00000465127.1:c.172-296311G>T ENSP00000417050.1:n.172-296311G>T
ENST00000488812.1:n.323G>T
NM_000531.5:c.231G>T NP_000522.3:p.Leu77Phe
XM_017029556.1:c.231G>T XP_016885045.1:p.Leu77Phe
NM_000531.6:c.231G>T MANE Select NP_000522.3:p.Leu77Phe