Canonical Allele Identifier: CA412716798

Gene: OTC

Linked Data

• gnomAD v4: X-38369803-C-T
• MyVariant Identifiers: chrX:g.38229056C>T (hg19) ; chrX:g.38369803C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369803C>T , CM000685.2:g.38369803C>T	GRCh38
NC_000023.10:g.38229056C>T , CM000685.1:g.38229056C>T	GRCh37
NC_000023.9:g.38114000C>T	NCBI36
NG_008471.1:g.22321C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.224C>T MANE Select	ENSP00000039007.4:p.Pro75Leu
ENST00000643344.1:c.224C>T	ENSP00000496606.1:p.Pro75Leu
ENST00000039007.4:c.224C>T	ENSP00000039007.4:p.Pro75Leu
ENST00000465127.1:c.172-296318C>T	ENSP00000417050.1:n.172-296318C>T
ENST00000488812.1:n.316C>T
NM_000531.5:c.224C>T	NP_000522.3:p.Pro75Leu
XM_017029556.1:c.224C>T	XP_016885045.1:p.Pro75Leu
NM_000531.6:c.224C>T MANE Select	NP_000522.3:p.Pro75Leu