Canonical Allele Identifier: CA2424871824
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs2068317190
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38370248G>A , CM000685.2:g.38370248G>A GRCh38
NC_000023.10:g.38229501G>A , CM000685.1:g.38229501G>A GRCh37
NC_000023.9:g.38114445G>A NCBI36
NG_008471.1:g.22766G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.298+371G>A MANE Select ENSP00000039007.4:n.298+371G>A
ENST00000643344.1:c.298+371G>A ENSP00000496606.1:n.298+371G>A
ENST00000039007.4:c.298+371G>A ENSP00000039007.4:n.298+371G>A
ENST00000465127.1:c.172-295873G>A ENSP00000417050.1:n.172-295873G>A
ENST00000488812.1:n.353+408G>A
NM_000531.5:c.298+371G>A NP_000522.3:n.298+371G>A
XM_017029556.1:c.298+371G>A XP_016885045.1:n.298+371G>A
NM_000531.6:c.298+371G>A MANE Select NP_000522.3:n.298+371G>A
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