Canonical Allele Identifier: CA412723072

Gene: OTC

Linked Data

• ClinVar Variation Id: 2115156
• ClinVar RCV Id: RCV003032524
• MyVariant Identifiers: chrX:g.38268211G>T (hg19) ; chrX:g.38408958G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408958G>T , CM000685.2:g.38408958G>T	GRCh38
NC_000023.10:g.38268211G>T , CM000685.1:g.38268211G>T	GRCh37
NC_000023.9:g.38153155G>T	NCBI36
NG_008471.1:g.61476G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.800G>T MANE Select	ENSP00000039007.4:p.Ser267Ile
ENST00000643344.1:c.*550G>T	ENSP00000496606.1:n.*550G>T
ENST00000039007.4:c.800G>T	ENSP00000039007.4:p.Ser267Ile
ENST00000465127.1:c.172-257163G>T	ENSP00000417050.1:n.172-257163G>T
NM_000531.5:c.800G>T	NP_000522.3:p.Ser267Ile
XM_017029556.1:c.800G>T	XP_016885045.1:p.Ser267Ile
NM_000531.6:c.800G>T MANE Select	NP_000522.3:p.Ser267Ile