Canonical Allele Identifier: CA10385910
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 256371
ClinVar RCV Id: RCV000246168
dbSNP Id: rs957415
ExAC: X:38263043 A / G
gnomAD v2: X-38263043-A-G
gnomAD v3: X-38403790-A-G
gnomAD v4: X-38403790-A-G
MyVariant Identifiers: chrX:g.38263043A>G (hg19) chrX:g.38403790A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403790A>G , CM000685.2:g.38403790A>G GRCh38
NC_000023.10:g.38263043A>G , CM000685.1:g.38263043A>G GRCh37
NC_000023.9:g.38147987A>G NCBI36
NG_008471.1:g.56308A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.663+50A>G MANE Select ENSP00000039007.4:n.663+50A>G
ENST00000643344.1:c.*413+50A>G ENSP00000496606.1:n.*413+50A>G
ENST00000039007.4:c.663+50A>G ENSP00000039007.4:n.663+50A>G
ENST00000465127.1:c.172-262331A>G ENSP00000417050.1:n.172-262331A>G
NM_000531.5:c.663+50A>G NP_000522.3:n.663+50A>G
XM_017029556.1:c.663+50A>G XP_016885045.1:n.663+50A>G
NM_000531.6:c.663+50A>G MANE Select NP_000522.3:n.663+50A>G
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