Canonical Allele Identifier: CA224608

Gene: OTC

Linked Data

• ClinVar Variation Id: 97202
• ClinVar RCV Id: RCV003323393
• dbSNP Id: rs67016166
• MyVariant Identifiers: chrX:g.38260584T>C (hg19) ; chrX:g.38401331T>C (hg38)
• PubMed: PMID:16786505

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401331T>C , CM000685.2:g.38401331T>C	GRCh38
NC_000023.10:g.38260584T>C , CM000685.1:g.38260584T>C	GRCh37
NC_000023.9:g.38145528T>C	NCBI36
NG_008471.1:g.53849T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.443T>C MANE Select	ENSP00000039007.4:p.Leu148Ser
ENST00000643344.1:c.*193T>C	ENSP00000496606.1:n.*193T>C
ENST00000039007.4:c.443T>C	ENSP00000039007.4:p.Leu148Ser
ENST00000465127.1:c.172-264790T>C	ENSP00000417050.1:n.172-264790T>C
ENST00000488812.1:n.480T>C
NM_000531.5:c.443T>C	NP_000522.3:p.Leu148Ser
XM_017029556.1:c.443T>C	XP_016885045.1:p.Leu148Ser
NM_000531.6:c.443T>C MANE Select	NP_000522.3:p.Leu148Ser