Canonical Allele Identifier: CA412718356

Gene: OTC

Linked Data

• dbSNP Id: rs2147330583
• gnomAD v4: X-38381383-C-A
• MyVariant Identifiers: chrX:g.38240636C>A (hg19) ; chrX:g.38381383C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38381383C>A , CM000685.2:g.38381383C>A	GRCh38
NC_000023.10:g.38240636C>A , CM000685.1:g.38240636C>A	GRCh37
NC_000023.9:g.38125580C>A	NCBI36
NG_008471.1:g.33901C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.340C>A MANE Select	ENSP00000039007.4:p.Gln114Lys
ENST00000643344.1:c.*90C>A	ENSP00000496606.1:n.*90C>A
ENST00000039007.4:c.340C>A	ENSP00000039007.4:p.Gln114Lys
ENST00000465127.1:c.172-284738C>A	ENSP00000417050.1:n.172-284738C>A
ENST00000488812.1:n.377C>A
NM_000531.5:c.340C>A	NP_000522.3:p.Gln114Lys
XM_017029556.1:c.340C>A	XP_016885045.1:p.Gln114Lys
NM_000531.6:c.340C>A MANE Select	NP_000522.3:p.Gln114Lys