Canonical Allele Identifier: CA412726369
Gene: OTC HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.38411938T>C
GRCh37 chrX:g.38271191T>C
Revel Score:
ENST00000039007 (MANE Select) 0.904
ClinVar RCV:
RCV001089874
ClinVar Variation:
870330
dbSNP:
67414444
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411938T>C , CM000685.2:g.38411938T>C GRCh38
NC_000023.10:g.38271191T>C , CM000685.1:g.38271191T>C GRCh37
NC_000023.9:g.38156135T>C NCBI36
NG_008471.1:g.64456T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.944T>C MANE Select ENSP00000039007.4:p.Val315Ala
ENST00000643344.1:c.*694T>C ENSP00000496606.1:n.*694T>C
ENST00000039007.4:c.944T>C ENSP00000039007.4:p.Val315Ala
ENST00000465127.1:c.172-254183T>C ENSP00000417050.1:n.172-254183T>C
NM_000531.5:c.944T>C NP_000522.3:p.Val315Ala
NM_000531.6:c.944T>C MANE Select NP_000522.3:p.Val315Ala
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