Canonical Allele Identifier: CA327944721
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs998744836
gnomAD v2: X-38263039-C-G
gnomAD v3: X-38403786-C-G
gnomAD v4: X-38403786-C-G
MyVariant Identifiers: chrX:g.38263039C>G (hg19) chrX:g.38403786C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403786C>G , CM000685.2:g.38403786C>G GRCh38
NC_000023.10:g.38263039C>G , CM000685.1:g.38263039C>G GRCh37
NC_000023.9:g.38147983C>G NCBI36
NG_008471.1:g.56304C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.663+46C>G MANE Select ENSP00000039007.4:n.663+46C>G
ENST00000643344.1:c.*413+46C>G ENSP00000496606.1:n.*413+46C>G
ENST00000039007.4:c.663+46C>G ENSP00000039007.4:n.663+46C>G
ENST00000465127.1:c.172-262335C>G ENSP00000417050.1:n.172-262335C>G
NM_000531.5:c.663+46C>G NP_000522.3:n.663+46C>G
XM_017029556.1:c.663+46C>G XP_016885045.1:n.663+46C>G
NM_000531.6:c.663+46C>G MANE Select NP_000522.3:n.663+46C>G
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