Canonical Allele Identifier: CA640867471
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs1421929698
gnomAD v2: X-38263040-C-T
gnomAD v3: X-38403787-C-T
gnomAD v4: X-38403787-C-T
MyVariant Identifiers: chrX:g.38263040C>T (hg19) chrX:g.38403787C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403787C>T , CM000685.2:g.38403787C>T GRCh38
NC_000023.10:g.38263040C>T , CM000685.1:g.38263040C>T GRCh37
NC_000023.9:g.38147984C>T NCBI36
NG_008471.1:g.56305C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.663+47C>T MANE Select ENSP00000039007.4:n.663+47C>T
ENST00000643344.1:c.*413+47C>T ENSP00000496606.1:n.*413+47C>T
ENST00000039007.4:c.663+47C>T ENSP00000039007.4:n.663+47C>T
ENST00000465127.1:c.172-262334C>T ENSP00000417050.1:n.172-262334C>T
NM_000531.5:c.663+47C>T NP_000522.3:n.663+47C>T
XM_017029556.1:c.663+47C>T XP_016885045.1:n.663+47C>T
NM_000531.6:c.663+47C>T MANE Select NP_000522.3:n.663+47C>T
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