Canonical Allele Identifier: CA412715679
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367289A>G , CM000685.2:g.38367289A>G GRCh38
NC_000023.10:g.38226542A>G , CM000685.1:g.38226542A>G GRCh37
NC_000023.9:g.38111486A>G NCBI36
NG_008471.1:g.19807A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.78-2A>G MANE Select ENSP00000039007.4:n.78-2A>G
ENST00000643344.1:c.78-2A>G ENSP00000496606.1:n.78-2A>G
ENST00000039007.4:c.78-2A>G ENSP00000039007.4:n.78-2A>G
ENST00000465127.1:c.172-298832A>G ENSP00000417050.1:n.172-298832A>G
ENST00000488812.1:n.170-2A>G
NM_000531.5:c.78-2A>G NP_000522.3:n.78-2A>G
XM_017029556.1:c.78-2A>G XP_016885045.1:n.78-2A>G
NM_000531.6:c.78-2A>G MANE Select NP_000522.3:n.78-2A>G