Canonical Allele Identifier: CA412723801

Gene: OTC

Linked Data

• MyVariant Identifiers: chrX:g.38268267G>T (hg19) ; chrX:g.38409014G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38409014G>T , CM000685.2:g.38409014G>T	GRCh38
NC_000023.10:g.38268267G>T , CM000685.1:g.38268267G>T	GRCh37
NC_000023.9:g.38153211G>T	NCBI36
NG_008471.1:g.61532G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.856G>T MANE Select	ENSP00000039007.4:p.Val286Phe
ENST00000643344.1:c.*606G>T	ENSP00000496606.1:n.*606G>T
ENST00000039007.4:c.856G>T	ENSP00000039007.4:p.Val286Phe
ENST00000465127.1:c.172-257107G>T	ENSP00000417050.1:n.172-257107G>T
NM_000531.5:c.856G>T	NP_000522.3:p.Val286Phe
XM_017029556.1:c.856G>T	XP_016885045.1:p.Val286Phe
NM_000531.6:c.856G>T MANE Select	NP_000522.3:p.Val286Phe