Canonical Allele Identifier: CA515650663

Gene: OTC

Linked Data

• ClinVar Variation Id: 2699850
• ClinVar RCV Id: RCV003510496
• gnomAD v4: X-38403674-T-C
• MyVariant Identifiers: chrX:g.38262927T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403674T>C , CM000685.2:g.38403674T>C	GRCh38
NC_000023.10:g.38262927T>C , CM000685.1:g.38262927T>C	GRCh37
NC_000023.9:g.38147871T>C	NCBI36
NG_008471.1:g.56192T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.597T>C MANE Select	ENSP00000039007.4:p.Asn199=
ENST00000643344.1:c.*347T>C	ENSP00000496606.1:n.*347T>C
ENST00000039007.4:c.597T>C	ENSP00000039007.4:p.Asn199=
ENST00000465127.1:c.172-262447T>C	ENSP00000417050.1:n.172-262447T>C
NM_000531.5:c.597T>C	NP_000522.3:p.Asn199=
XM_017029556.1:c.597T>C	XP_016885045.1:p.Asn199=
NM_000531.6:c.597T>C MANE Select	NP_000522.3:p.Asn199=