Canonical Allele Identifier: CA224544

Gene: OTC

Linked Data

• ClinVar Variation Id: 97160
• ClinVar RCV Id: RCV000083393
• dbSNP Id: rs68058881
• MyVariant Identifiers: chrX:g.38229131G>T (hg19) ; chrX:g.38369878G>T (hg38)
• PubMed: PMID:16786505

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369878G>T , CM000685.2:g.38369878G>T	GRCh38
NC_000023.10:g.38229131G>T , CM000685.1:g.38229131G>T	GRCh37
NC_000023.9:g.38114075G>T	NCBI36
NG_008471.1:g.22396G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.298+1G>T MANE Select	ENSP00000039007.4:n.298+1G>T
ENST00000643344.1:c.298+1G>T	ENSP00000496606.1:n.298+1G>T
ENST00000039007.4:c.298+1G>T	ENSP00000039007.4:n.298+1G>T
ENST00000465127.1:c.172-296243G>T	ENSP00000417050.1:n.172-296243G>T
ENST00000488812.1:n.353+38G>T
NM_000531.5:c.298+1G>T	NP_000522.3:n.298+1G>T
XM_017029556.1:c.298+1G>T	XP_016885045.1:n.298+1G>T
NM_000531.6:c.298+1G>T MANE Select	NP_000522.3:n.298+1G>T