Canonical Allele Identifier: CA412725725

Gene: OTC

Linked Data

• MyVariant Identifiers: chrX:g.38271141G>T (hg19) ; chrX:g.38411888G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38411888G>T , CM000685.2:g.38411888G>T	GRCh38
NC_000023.10:g.38271141G>T , CM000685.1:g.38271141G>T	GRCh37
NC_000023.9:g.38156085G>T	NCBI36
NG_008471.1:g.64406G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.894G>T MANE Select	ENSP00000039007.4:p.Trp298Cys
ENST00000643344.1:c.*644G>T	ENSP00000496606.1:n.*644G>T
ENST00000039007.4:c.894G>T	ENSP00000039007.4:p.Trp298Cys
ENST00000465127.1:c.172-254233G>T	ENSP00000417050.1:n.172-254233G>T
NM_000531.5:c.894G>T	NP_000522.3:p.Trp298Cys
NM_000531.6:c.894G>T MANE Select	NP_000522.3:p.Trp298Cys