Canonical Allele Identifier: CA412717039
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38369874-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369874A>G , CM000685.2:g.38369874A>G GRCh38
NC_000023.10:g.38229127A>G , CM000685.1:g.38229127A>G GRCh37
NC_000023.9:g.38114071A>G NCBI36
NG_008471.1:g.22392A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.295A>G MANE Select ENSP00000039007.4:p.Thr99Ala
ENST00000643344.1:c.295A>G ENSP00000496606.1:p.Thr99Ala
ENST00000039007.4:c.295A>G ENSP00000039007.4:p.Thr99Ala
ENST00000465127.1:c.172-296247A>G ENSP00000417050.1:n.172-296247A>G
ENST00000488812.1:n.353+34A>G
NM_000531.5:c.295A>G NP_000522.3:p.Thr99Ala
XM_017029556.1:c.295A>G XP_016885045.1:p.Thr99Ala
NM_000531.6:c.295A>G MANE Select NP_000522.3:p.Thr99Ala