Canonical Allele Identifier: CA412716391

Gene: OTC

Linked Data

• gnomAD v4: X-38367406-T-A
• MyVariant Identifiers: chrX:g.38226659T>A (hg19) ; chrX:g.38367406T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367406T>A , CM000685.2:g.38367406T>A	GRCh38
NC_000023.10:g.38226659T>A , CM000685.1:g.38226659T>A	GRCh37
NC_000023.9:g.38111603T>A	NCBI36
NG_008471.1:g.19924T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.193T>A MANE Select	ENSP00000039007.4:p.Phe65Ile
ENST00000643344.1:c.193T>A	ENSP00000496606.1:p.Phe65Ile
ENST00000039007.4:c.193T>A	ENSP00000039007.4:p.Phe65Ile
ENST00000465127.1:c.172-298715T>A	ENSP00000417050.1:n.172-298715T>A
ENST00000488812.1:n.285T>A
NM_000531.5:c.193T>A	NP_000522.3:p.Phe65Ile
XM_017029556.1:c.193T>A	XP_016885045.1:p.Phe65Ile
NM_000531.6:c.193T>A MANE Select	NP_000522.3:p.Phe65Ile