Canonical Allele Identifier: CA875174594
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs1335141674
gnomAD v3: X-38403816-AG-A
gnomAD v4: X-38403816-AG-A
MyVariant Identifiers: chrX:g.38263070del (hg19) chrX:g.38403817del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403817del , CM000685.2:g.38403817del GRCh38
NC_000023.10:g.38263070del , CM000685.1:g.38263070del GRCh37
NC_000023.9:g.38148014del NCBI36
NG_008471.1:g.56335del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.663+77del MANE Select ENSP00000039007.4:n.663+77del
ENST00000643344.1:c.*413+77del ENSP00000496606.1:n.*413+77del
ENST00000039007.4:c.663+77del ENSP00000039007.4:n.663+77del
ENST00000465127.1:c.172-262304del ENSP00000417050.1:n.172-262304del
NM_000531.5:c.663+77del NP_000522.3:n.663+77del
XM_017029556.1:c.663+77del XP_016885045.1:n.663+77del
NM_000531.6:c.663+77del MANE Select NP_000522.3:n.663+77del
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