Canonical Allele Identifier: CA412723698
Gene: OTC HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.38401381G>C
GRCh37 chrX:g.38260634G>C
Revel Score:
ENST00000039007 (MANE Select) 0.941
gnomAD v2:
X:38260634 G / C
gnomAD v3:
X:38401381 G / C
gnomAD v4:
chrX-38401381-G-C
Joint Max Group AF 0.00000581 (AFR)
ClinVar RCV:
RCV000990788
ClinVar Variation:
803978
dbSNP:
72556275
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401381G>C , CM000685.2:g.38401381G>C GRCh38
NC_000023.10:g.38260634G>C , CM000685.1:g.38260634G>C GRCh37
NC_000023.9:g.38145578G>C NCBI36
NG_008471.1:g.53899G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.493G>C MANE Select ENSP00000039007.4:p.Asp165His
ENST00000643344.1:c.*243G>C ENSP00000496606.1:n.*243G>C
ENST00000039007.4:c.493G>C ENSP00000039007.4:p.Asp165His
ENST00000465127.1:c.172-264740G>C ENSP00000417050.1:n.172-264740G>C
ENST00000488812.1:n.530G>C
NM_000531.5:c.493G>C NP_000522.3:p.Asp165His
XM_017029556.1:c.493G>C XP_016885045.1:p.Asp165His
NM_000531.6:c.493G>C MANE Select NP_000522.3:p.Asp165His
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