Canonical Allele Identifier: CA412722521

Gene: OTC

Linked Data

• MyVariant Identifiers: chrX:g.38268158T>G (hg19) ; chrX:g.38408905T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408905T>G , CM000685.2:g.38408905T>G	GRCh38
NC_000023.10:g.38268158T>G , CM000685.1:g.38268158T>G	GRCh37
NC_000023.9:g.38153102T>G	NCBI36
NG_008471.1:g.61423T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.747T>G MANE Select	ENSP00000039007.4:p.Asp249Glu
ENST00000643344.1:c.*497T>G	ENSP00000496606.1:n.*497T>G
ENST00000039007.4:c.747T>G	ENSP00000039007.4:p.Asp249Glu
ENST00000465127.1:c.172-257216T>G	ENSP00000417050.1:n.172-257216T>G
NM_000531.5:c.747T>G	NP_000522.3:p.Asp249Glu
XM_017029556.1:c.747T>G	XP_016885045.1:p.Asp249Glu
NM_000531.6:c.747T>G MANE Select	NP_000522.3:p.Asp249Glu