Canonical Allele Identifier: CA412723353

Gene: OTC

Linked Data

• gnomAD v4: X-38401339-C-A
• MyVariant Identifiers: chrX:g.38260592C>A (hg19) ; chrX:g.38401339C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401339C>A , CM000685.2:g.38401339C>A	GRCh38
NC_000023.10:g.38260592C>A , CM000685.1:g.38260592C>A	GRCh37
NC_000023.9:g.38145536C>A	NCBI36
NG_008471.1:g.53857C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.451C>A MANE Select	ENSP00000039007.4:p.Leu151Met
ENST00000643344.1:c.*201C>A	ENSP00000496606.1:n.*201C>A
ENST00000039007.4:c.451C>A	ENSP00000039007.4:p.Leu151Met
ENST00000465127.1:c.172-264782C>A	ENSP00000417050.1:n.172-264782C>A
ENST00000488812.1:n.488C>A
NM_000531.5:c.451C>A	NP_000522.3:p.Leu151Met
XM_017029556.1:c.451C>A	XP_016885045.1:p.Leu151Met
NM_000531.6:c.451C>A MANE Select	NP_000522.3:p.Leu151Met