Canonical Allele Identifier: CA412722343
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408893G>C , CM000685.2:g.38408893G>C GRCh38
NC_000023.10:g.38268146G>C , CM000685.1:g.38268146G>C GRCh37
NC_000023.9:g.38153090G>C NCBI36
NG_008471.1:g.61411G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.735G>C MANE Select ENSP00000039007.4:p.Leu245Phe
ENST00000643344.1:c.*485G>C ENSP00000496606.1:n.*485G>C
ENST00000039007.4:c.735G>C ENSP00000039007.4:p.Leu245Phe
ENST00000465127.1:c.172-257228G>C ENSP00000417050.1:n.172-257228G>C
NM_000531.5:c.735G>C NP_000522.3:p.Leu245Phe
XM_017029556.1:c.735G>C XP_016885045.1:p.Leu245Phe
NM_000531.6:c.735G>C MANE Select NP_000522.3:p.Leu245Phe