Canonical Allele Identifier: CA10385951
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs753594259
ExAC: X:38271077 A / G
gnomAD v2: X-38271077-A-G
gnomAD v3: X-38411824-A-G
gnomAD v4: X-38411824-A-G
MyVariant Identifiers: chrX:g.38271077A>G (hg19) chrX:g.38411824A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411824A>G , CM000685.2:g.38411824A>G GRCh38
NC_000023.10:g.38271077A>G , CM000685.1:g.38271077A>G GRCh37
NC_000023.9:g.38156021A>G NCBI36
NG_008471.1:g.64342A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.868-38A>G MANE Select ENSP00000039007.4:n.868-38A>G
ENST00000643344.1:c.*618-38A>G ENSP00000496606.1:n.*618-38A>G
ENST00000039007.4:c.868-38A>G ENSP00000039007.4:n.868-38A>G
ENST00000465127.1:c.172-254297A>G ENSP00000417050.1:n.172-254297A>G
NM_000531.5:c.868-38A>G NP_000522.3:n.868-38A>G
XM_017029556.1:c.899A>G XP_016885045.1:p.Tyr300Cys
NM_000531.6:c.868-38A>G MANE Select NP_000522.3:n.868-38A>G
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