Canonical Allele Identifier: CA224731

Gene: OTC

Linked Data

• ClinVar Variation Id: 97284
• ClinVar RCV Id: RCV000083528 ; RCV000634848
• dbSNP Id: rs68170503
• COSMIC: COSM6186690
• MyVariant Identifiers: chrX:g.38262994G>T (hg19) ; chrX:g.38403741G>T (hg38)
• PubMed: PMID:8566955

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403741G>T , CM000685.2:g.38403741G>T	GRCh38
NC_000023.10:g.38262994G>T , CM000685.1:g.38262994G>T	GRCh37
NC_000023.9:g.38147938G>T	NCBI36
NG_008471.1:g.56259G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.663+1G>T MANE Select	ENSP00000039007.4:n.663+1G>T
ENST00000643344.1:c.*413+1G>T	ENSP00000496606.1:n.*413+1G>T
ENST00000039007.4:c.663+1G>T	ENSP00000039007.4:n.663+1G>T
ENST00000465127.1:c.172-262380G>T	ENSP00000417050.1:n.172-262380G>T
NM_000531.5:c.663+1G>T	NP_000522.3:n.663+1G>T
XM_017029556.1:c.663+1G>T	XP_016885045.1:n.663+1G>T
NM_000531.6:c.663+1G>T MANE Select	NP_000522.3:n.663+1G>T