Canonical Allele Identifier: CA10385782
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs766512759
gnomAD v4: X-38367286-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367286T>A , CM000685.2:g.38367286T>A GRCh38
NC_000023.10:g.38226539T>A , CM000685.1:g.38226539T>A GRCh37
NC_000023.9:g.38111483T>A NCBI36
NG_008471.1:g.19804T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.78-5T>A MANE Select ENSP00000039007.4:n.78-5T>A
ENST00000643344.1:c.78-5T>A ENSP00000496606.1:n.78-5T>A
ENST00000039007.4:c.78-5T>A ENSP00000039007.4:n.78-5T>A
ENST00000465127.1:c.172-298835T>A ENSP00000417050.1:n.172-298835T>A
ENST00000488812.1:n.170-5T>A
NM_000531.5:c.78-5T>A NP_000522.3:n.78-5T>A
XM_017029556.1:c.78-5T>A XP_016885045.1:n.78-5T>A
NM_000531.6:c.78-5T>A MANE Select NP_000522.3:n.78-5T>A