Canonical Allele Identifier: CA224463

Gene: OTC

Linked Data

• ClinVar Variation Id: 97112
• ClinVar RCV Id: RCV000083340 ; RCV000148720 ; RCV000454814 ; RCV003945033
• dbSNP Id: rs67939655
• ExAC: X:38226606 A / C
• gnomAD v2: X-38226606-A-C
• gnomAD v3: X-38367353-A-C
• gnomAD v4: X-38367353-A-C
• MyVariant Identifiers: chrX:g.38226606A>C (hg19) ; chrX:g.38367353A>C (hg38)
• PubMed: PMID:16786505

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367353A>C , CM000685.2:g.38367353A>C	GRCh38
NC_000023.10:g.38226606A>C , CM000685.1:g.38226606A>C	GRCh37
NC_000023.9:g.38111550A>C	NCBI36
NG_008471.1:g.19871A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.140A>C MANE Select	ENSP00000039007.4:p.Asn47Thr
ENST00000643344.1:c.140A>C	ENSP00000496606.1:p.Asn47Thr
ENST00000039007.4:c.140A>C	ENSP00000039007.4:p.Asn47Thr
ENST00000465127.1:c.172-298768A>C	ENSP00000417050.1:n.172-298768A>C
ENST00000488812.1:n.232A>C
NM_000531.5:c.140A>C	NP_000522.3:p.Asn47Thr
XM_017029556.1:c.140A>C	XP_016885045.1:p.Asn47Thr
NM_000531.6:c.140A>C MANE Select	NP_000522.3:p.Asn47Thr