Canonical Allele Identifier: CA412716472

Gene: OTC

Linked Data

• ClinVar Variation Id: 1726266
• ClinVar RCV Id: RCV002307237
• MyVariant Identifiers: chrX:g.38226674A>T (hg19) ; chrX:g.38367421A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367421A>T , CM000685.2:g.38367421A>T	GRCh38
NC_000023.10:g.38226674A>T , CM000685.1:g.38226674A>T	GRCh37
NC_000023.9:g.38111618A>T	NCBI36
NG_008471.1:g.19939A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.208A>T MANE Select	ENSP00000039007.4:p.Lys70Ter
ENST00000643344.1:c.208A>T	ENSP00000496606.1:p.Lys70Ter
ENST00000039007.4:c.208A>T	ENSP00000039007.4:p.Lys70Ter
ENST00000465127.1:c.172-298700A>T	ENSP00000417050.1:n.172-298700A>T
ENST00000488812.1:n.300A>T
NM_000531.5:c.208A>T	NP_000522.3:p.Lys70Ter
XM_017029556.1:c.208A>T	XP_016885045.1:p.Lys70Ter
NM_000531.6:c.208A>T MANE Select	NP_000522.3:p.Lys70Ter