Canonical Allele Identifier: CA10385857
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs368240058
ExAC: X:38260479 A / G
gnomAD v2: X-38260479-A-G
gnomAD v3: X-38401226-A-G
gnomAD v4: X-38401226-A-G
MyVariant Identifiers: chrX:g.38260479A>G (hg19) chrX:g.38401226A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401226A>G , CM000685.2:g.38401226A>G GRCh38
NC_000023.10:g.38260479A>G , CM000685.1:g.38260479A>G GRCh37
NC_000023.9:g.38145423A>G NCBI36
NG_008471.1:g.53744A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.387-49A>G MANE Select ENSP00000039007.4:n.387-49A>G
ENST00000643344.1:c.*137-49A>G ENSP00000496606.1:n.*137-49A>G
ENST00000039007.4:c.387-49A>G ENSP00000039007.4:n.387-49A>G
ENST00000465127.1:c.172-264895A>G ENSP00000417050.1:n.172-264895A>G
ENST00000488812.1:n.424-49A>G
NM_000531.5:c.387-49A>G NP_000522.3:n.387-49A>G
XM_017029556.1:c.387-49A>G XP_016885045.1:n.387-49A>G
NM_000531.6:c.387-49A>G MANE Select NP_000522.3:n.387-49A>G
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