Canonical Allele Identifier: CA224438
Gene: OTC HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.38421032G>C
GRCh37 chrX:g.38280285G>C
Revel Score:
ENST00000039007 (MANE Select) 0.649
ClinVar RCV:
RCV000083320
ClinVar Variation:
97096
dbSNP:
72558488
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38421032G>C , CM000685.2:g.38421032G>C GRCh38
NC_000023.10:g.38280285G>C , CM000685.1:g.38280285G>C GRCh37
NC_000023.9:g.38165229G>C NCBI36
NG_008471.1:g.73550G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.1015G>C MANE Select ENSP00000039007.4:p.Val339Leu
ENST00000643344.1:c.*765G>C ENSP00000496606.1:n.*765G>C
ENST00000039007.4:c.1015G>C ENSP00000039007.4:p.Val339Leu
ENST00000465127.1:c.172-245089G>C ENSP00000417050.1:n.172-245089G>C
NM_000531.5:c.1015G>C NP_000522.3:p.Val339Leu
NM_000531.6:c.1015G>C MANE Select NP_000522.3:p.Val339Leu
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