Canonical Allele Identifier: CA10385837

Gene: OTC

Linked Data

• ClinVar Variation Id: 794330
• ClinVar RCV Id: RCV000977578
• dbSNP Id: rs377576551
• ExAC: X:38240590 T / C
• gnomAD v2: X-38240590-T-C
• gnomAD v4: X-38381337-T-C
• MyVariant Identifiers: chrX:g.38240590T>C (hg19) ; chrX:g.38381337T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38381337T>C , CM000685.2:g.38381337T>C	GRCh38
NC_000023.10:g.38240590T>C , CM000685.1:g.38240590T>C	GRCh37
NC_000023.9:g.38125534T>C	NCBI36
NG_008471.1:g.33855T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.299-5T>C MANE Select	ENSP00000039007.4:n.299-5T>C
ENST00000643344.1:c.*49-5T>C	ENSP00000496606.1:n.*49-5T>C
ENST00000039007.4:c.299-5T>C	ENSP00000039007.4:n.299-5T>C
ENST00000465127.1:c.172-284784T>C	ENSP00000417050.1:n.172-284784T>C
ENST00000488812.1:n.354-23T>C
NM_000531.5:c.299-5T>C	NP_000522.3:n.299-5T>C
XM_017029556.1:c.299-5T>C	XP_016885045.1:n.299-5T>C
NM_000531.6:c.299-5T>C MANE Select	NP_000522.3:n.299-5T>C