Canonical Allele Identifier: CA412716940

Gene: OTC

Linked Data

• gnomAD v4: X-38369836-T-G
• MyVariant Identifiers: chrX:g.38229089T>G (hg19) ; chrX:g.38369836T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369836T>G , CM000685.2:g.38369836T>G	GRCh38
NC_000023.10:g.38229089T>G , CM000685.1:g.38229089T>G	GRCh37
NC_000023.9:g.38114033T>G	NCBI36
NG_008471.1:g.22354T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.257T>G MANE Select	ENSP00000039007.4:p.Phe86Cys
ENST00000643344.1:c.257T>G	ENSP00000496606.1:p.Phe86Cys
ENST00000039007.4:c.257T>G	ENSP00000039007.4:p.Phe86Cys
ENST00000465127.1:c.172-296285T>G	ENSP00000417050.1:n.172-296285T>G
ENST00000488812.1:n.349T>G
NM_000531.5:c.257T>G	NP_000522.3:p.Phe86Cys
XM_017029556.1:c.257T>G	XP_016885045.1:p.Phe86Cys
NM_000531.6:c.257T>G MANE Select	NP_000522.3:p.Phe86Cys