Canonical Allele Identifier: CA224546
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97162
ClinVar RCV Id: RCV002313837 RCV003925087
dbSNP Id: rs72554348
ExAC: X:38229135 G / C
gnomAD v2: X-38229135-G-C
gnomAD v3: X-38369882-G-C
gnomAD v4: X-38369882-G-C
MyVariant Identifiers: chrX:g.38229135G>C (hg19) chrX:g.38369882G>C (hg38)
PubMed: PMID:16786505
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369882G>C , CM000685.2:g.38369882G>C GRCh38
NC_000023.10:g.38229135G>C , CM000685.1:g.38229135G>C GRCh37
NC_000023.9:g.38114079G>C NCBI36
NG_008471.1:g.22400G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.298+5G>C MANE Select ENSP00000039007.4:n.298+5G>C
ENST00000643344.1:c.298+5G>C ENSP00000496606.1:n.298+5G>C
ENST00000039007.4:c.298+5G>C ENSP00000039007.4:n.298+5G>C
ENST00000465127.1:c.172-296239G>C ENSP00000417050.1:n.172-296239G>C
ENST00000488812.1:n.353+42G>C
NM_000531.5:c.298+5G>C NP_000522.3:n.298+5G>C
XM_017029556.1:c.298+5G>C XP_016885045.1:n.298+5G>C
NM_000531.6:c.298+5G>C MANE Select NP_000522.3:n.298+5G>C
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