Canonical Allele Identifier: CA1132413510
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs1026157588
gnomAD v3: X-38369708-A-C
gnomAD v4: X-38369708-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369708A>C , CM000685.2:g.38369708A>C GRCh38
NC_000023.10:g.38228961A>C , CM000685.1:g.38228961A>C GRCh37
NC_000023.9:g.38113905A>C NCBI36
NG_008471.1:g.22226A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.217-88A>C MANE Select ENSP00000039007.4:n.217-88A>C
ENST00000643344.1:c.217-88A>C ENSP00000496606.1:n.217-88A>C
ENST00000039007.4:c.217-88A>C ENSP00000039007.4:n.217-88A>C
ENST00000465127.1:c.172-296413A>C ENSP00000417050.1:n.172-296413A>C
ENST00000488812.1:n.309-88A>C
NM_000531.5:c.217-88A>C NP_000522.3:n.217-88A>C
XM_017029556.1:c.217-88A>C XP_016885045.1:n.217-88A>C
NM_000531.6:c.217-88A>C MANE Select NP_000522.3:n.217-88A>C
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