Canonical Allele Identifier: CA2580100801
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 2109806
ClinVar RCV Id: RCV003031949
gnomAD v4: X-38408733-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408733C>T , CM000685.2:g.38408733C>T GRCh38
NC_000023.10:g.38267986C>T , CM000685.1:g.38267986C>T GRCh37
NC_000023.9:g.38152930C>T NCBI36
NG_008471.1:g.61251C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.664-9C>T MANE Select ENSP00000039007.4:n.664-9C>T
ENST00000643344.1:c.*414-9C>T ENSP00000496606.1:n.*414-9C>T
ENST00000039007.4:c.664-9C>T ENSP00000039007.4:n.664-9C>T
ENST00000465127.1:c.172-257388C>T ENSP00000417050.1:n.172-257388C>T
NM_000531.5:c.664-9C>T NP_000522.3:n.664-9C>T
XM_017029556.1:c.664-9C>T XP_016885045.1:n.664-9C>T
NM_000531.6:c.664-9C>T MANE Select NP_000522.3:n.664-9C>T
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