Canonical Allele Identifier: CA224436
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97094
ClinVar RCV Id: RCV000083318
dbSNP Id: rs72558486
MyVariant Identifiers: chrX:g.38280276G>T (hg19) chrX:g.38421023G>T (hg38)
PubMed: PMID:9686344
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38421023G>T , CM000685.2:g.38421023G>T GRCh38
NC_000023.10:g.38280276G>T , CM000685.1:g.38280276G>T GRCh37
NC_000023.9:g.38165220G>T NCBI36
NG_008471.1:g.73541G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.1006G>T MANE Select ENSP00000039007.4:p.Ala336Ser
ENST00000643344.1:c.*756G>T ENSP00000496606.1:n.*756G>T
ENST00000039007.4:c.1006G>T ENSP00000039007.4:p.Ala336Ser
ENST00000465127.1:c.172-245098G>T ENSP00000417050.1:n.172-245098G>T
NM_000531.5:c.1006G>T NP_000522.3:p.Ala336Ser
NM_000531.6:c.1006G>T MANE Select NP_000522.3:p.Ala336Ser
Search 100 bp 5'
Search 100 bp 3'