Canonical Allele Identifier: CA412723002

Gene: OTC

Linked Data

• dbSNP Id: rs72556256
• gnomAD v4: X-38401292-C-T
• MyVariant Identifiers: chrX:g.38260545C>T (hg19) ; chrX:g.38401292C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401292C>T , CM000685.2:g.38401292C>T	GRCh38
NC_000023.10:g.38260545C>T , CM000685.1:g.38260545C>T	GRCh37
NC_000023.9:g.38145489C>T	NCBI36
NG_008471.1:g.53810C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.404C>T MANE Select	ENSP00000039007.4:p.Ala135Val
ENST00000643344.1:c.*154C>T	ENSP00000496606.1:n.*154C>T
ENST00000039007.4:c.404C>T	ENSP00000039007.4:p.Ala135Val
ENST00000465127.1:c.172-264829C>T	ENSP00000417050.1:n.172-264829C>T
ENST00000488812.1:n.441C>T
NM_000531.5:c.404C>T	NP_000522.3:p.Ala135Val
XM_017029556.1:c.404C>T	XP_016885045.1:p.Ala135Val
NM_000531.6:c.404C>T MANE Select	NP_000522.3:p.Ala135Val