Canonical Allele Identifier: CA224717

Gene: OTC

Linked Data

• ClinVar Variation Id: 97275
• ClinVar RCV Id: RCV000083518 ; RCV000634844
• dbSNP Id: rs72558417
• COSMIC: COSM3561621
• MyVariant Identifiers: chrX:g.38262956C>T (hg19) ; chrX:g.38403703C>T (hg38)
• PubMed: PMID:9427144

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403703C>T , CM000685.2:g.38403703C>T	GRCh38
NC_000023.10:g.38262956C>T , CM000685.1:g.38262956C>T	GRCh37
NC_000023.9:g.38147900C>T	NCBI36
NG_008471.1:g.56221C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.626C>T MANE Select	ENSP00000039007.4:p.Ala209Val
ENST00000643344.1:c.*376C>T	ENSP00000496606.1:n.*376C>T
ENST00000039007.4:c.626C>T	ENSP00000039007.4:p.Ala209Val
ENST00000465127.1:c.172-262418C>T	ENSP00000417050.1:n.172-262418C>T
NM_000531.5:c.626C>T	NP_000522.3:p.Ala209Val
XM_017029556.1:c.626C>T	XP_016885045.1:p.Ala209Val
NM_000531.6:c.626C>T MANE Select	NP_000522.3:p.Ala209Val