Canonical Allele Identifier: CA224459

Gene: OTC

Linked Data

• ClinVar Variation Id: 97109
• ClinVar RCV Id: RCV000083336 ; RCV001813756
• dbSNP Id: rs72554310
• MyVariant Identifiers: chrX:g.38226597C>T (hg19) ; chrX:g.38367344C>T (hg38)
• PubMed: PMID:8830175

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367344C>T , CM000685.2:g.38367344C>T	GRCh38
NC_000023.10:g.38226597C>T , CM000685.1:g.38226597C>T	GRCh37
NC_000023.9:g.38111541C>T	NCBI36
NG_008471.1:g.19862C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.131C>T MANE Select	ENSP00000039007.4:p.Thr44Ile
ENST00000643344.1:c.131C>T	ENSP00000496606.1:p.Thr44Ile
ENST00000039007.4:c.131C>T	ENSP00000039007.4:p.Thr44Ile
ENST00000465127.1:c.172-298777C>T	ENSP00000417050.1:n.172-298777C>T
ENST00000488812.1:n.223C>T
NM_000531.5:c.131C>T	NP_000522.3:p.Thr44Ile
XM_017029556.1:c.131C>T	XP_016885045.1:p.Thr44Ile
NM_000531.6:c.131C>T MANE Select	NP_000522.3:p.Thr44Ile