Canonical Allele Identifier: CA412716011
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38367344-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367344C>A , CM000685.2:g.38367344C>A GRCh38
NC_000023.10:g.38226597C>A , CM000685.1:g.38226597C>A GRCh37
NC_000023.9:g.38111541C>A NCBI36
NG_008471.1:g.19862C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.131C>A MANE Select ENSP00000039007.4:p.Thr44Asn
ENST00000643344.1:c.131C>A ENSP00000496606.1:p.Thr44Asn
ENST00000039007.4:c.131C>A ENSP00000039007.4:p.Thr44Asn
ENST00000465127.1:c.172-298777C>A ENSP00000417050.1:n.172-298777C>A
ENST00000488812.1:n.223C>A
NM_000531.5:c.131C>A NP_000522.3:p.Thr44Asn
XM_017029556.1:c.131C>A XP_016885045.1:p.Thr44Asn
NM_000531.6:c.131C>A MANE Select NP_000522.3:p.Thr44Asn