Canonical Allele Identifier: CA1132412371
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs2068300599
gnomAD v3: X-38367240-A-G
gnomAD v4: X-38367240-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367240A>G , CM000685.2:g.38367240A>G GRCh38
NC_000023.10:g.38226493A>G , CM000685.1:g.38226493A>G GRCh37
NC_000023.9:g.38111437A>G NCBI36
NG_008471.1:g.19758A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.78-51A>G MANE Select ENSP00000039007.4:n.78-51A>G
ENST00000643344.1:c.78-51A>G ENSP00000496606.1:n.78-51A>G
ENST00000039007.4:c.78-51A>G ENSP00000039007.4:n.78-51A>G
ENST00000465127.1:c.172-298881A>G ENSP00000417050.1:n.172-298881A>G
ENST00000488812.1:n.170-51A>G
NM_000531.5:c.78-51A>G NP_000522.3:n.78-51A>G
XM_017029556.1:c.78-51A>G XP_016885045.1:n.78-51A>G
NM_000531.6:c.78-51A>G MANE Select NP_000522.3:n.78-51A>G