Canonical Allele Identifier: CA412717047

Gene: OTC

Linked Data

• ClinVar Variation Id: 2677426
• ClinVar RCV Id: RCV003471647
• gnomAD v4: X-38369879-T-C
• MyVariant Identifiers: chrX:g.38229132T>C (hg19) ; chrX:g.38369879T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369879T>C , CM000685.2:g.38369879T>C	GRCh38
NC_000023.10:g.38229132T>C , CM000685.1:g.38229132T>C	GRCh37
NC_000023.9:g.38114076T>C	NCBI36
NG_008471.1:g.22397T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.298+2T>C MANE Select	ENSP00000039007.4:n.298+2T>C
ENST00000643344.1:c.298+2T>C	ENSP00000496606.1:n.298+2T>C
ENST00000039007.4:c.298+2T>C	ENSP00000039007.4:n.298+2T>C
ENST00000465127.1:c.172-296242T>C	ENSP00000417050.1:n.172-296242T>C
ENST00000488812.1:n.353+39T>C
NM_000531.5:c.298+2T>C	NP_000522.3:n.298+2T>C
XM_017029556.1:c.298+2T>C	XP_016885045.1:n.298+2T>C
NM_000531.6:c.298+2T>C MANE Select	NP_000522.3:n.298+2T>C