Canonical Allele Identifier: CA515644251

Gene: OTC

Linked Data

• MyVariant Identifiers: chrX:g.38226635C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367382C>T , CM000685.2:g.38367382C>T	GRCh38
NC_000023.10:g.38226635C>T , CM000685.1:g.38226635C>T	GRCh37
NC_000023.9:g.38111579C>T	NCBI36
NG_008471.1:g.19900C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.169C>T MANE Select	ENSP00000039007.4:p.Leu57=
ENST00000643344.1:c.169C>T	ENSP00000496606.1:p.Leu57=
ENST00000039007.4:c.169C>T	ENSP00000039007.4:p.Leu57=
ENST00000465127.1:c.172-298739C>T	ENSP00000417050.1:n.172-298739C>T
ENST00000488812.1:n.261C>T
NM_000531.5:c.169C>T	NP_000522.3:p.Leu57=
XM_017029556.1:c.169C>T	XP_016885045.1:p.Leu57=
NM_000531.6:c.169C>T MANE Select	NP_000522.3:p.Leu57=