Canonical Allele Identifier: CA146751

Gene: OTC

Linked Data

• ClinVar Variation Id: 93223
• ClinVar RCV Id: RCV000079087 ; RCV000374672 ; RCV001650901
• dbSNP Id: rs55722856
• ExAC: X:38268115 T / C
• gnomAD v2: X-38268115-T-C
• gnomAD v3: X-38408862-T-C
• gnomAD v4: X-38408862-T-C
• MyVariant Identifiers: chrX:g.38268115T>C (hg19) ; chrX:g.38408862T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408862T>C , CM000685.2:g.38408862T>C	GRCh38
NC_000023.10:g.38268115T>C , CM000685.1:g.38268115T>C	GRCh37
NC_000023.9:g.38153059T>C	NCBI36
NG_008471.1:g.61380T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.718-14T>C MANE Select	ENSP00000039007.4:n.718-14T>C
ENST00000643344.1:c.*468-14T>C	ENSP00000496606.1:n.*468-14T>C
ENST00000039007.4:c.718-14T>C	ENSP00000039007.4:n.718-14T>C
ENST00000465127.1:c.172-257259T>C	ENSP00000417050.1:n.172-257259T>C
NM_000531.5:c.718-14T>C	NP_000522.3:n.718-14T>C
XM_017029556.1:c.718-14T>C	XP_016885045.1:n.718-14T>C
NM_000531.6:c.718-14T>C MANE Select	NP_000522.3:n.718-14T>C