Canonical Allele Identifier: CA515642700
Gene: OTC HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.38411900C>T
GRCh37 chrX:g.38271153C>T
gnomAD v2:
X:38271153 C / T
gnomAD v3:
X:38411900 C / T
gnomAD v4:
chrX-38411900-C-T
Joint Max Group AF 0.00000105 (NFE)
Genomes Max Group AF 0.00000623 (NFE)
Exomes Max Group AF 4e-7 (NFE)
ClinVar RCV:
RCV001417732
ClinVar Variation:
1096485
dbSNP:
67870244
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411900C>T , CM000685.2:g.38411900C>T GRCh38
NC_000023.10:g.38271153C>T , CM000685.1:g.38271153C>T GRCh37
NC_000023.9:g.38156097C>T NCBI36
NG_008471.1:g.64418C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.906C>T MANE Select ENSP00000039007.4:p.His302=
ENST00000643344.1:c.*656C>T ENSP00000496606.1:n.*656C>T
ENST00000039007.4:c.906C>T ENSP00000039007.4:p.His302=
ENST00000465127.1:c.172-254221C>T ENSP00000417050.1:n.172-254221C>T
NM_000531.5:c.906C>T NP_000522.3:p.His302=
NM_000531.6:c.906C>T MANE Select NP_000522.3:p.His302=
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