Canonical Allele Identifier: CA515650672

Gene: OTC

Linked Data

• gnomAD v4: X-38403680-G-T
• MyVariant Identifiers: chrX:g.38262933G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403680G>T , CM000685.2:g.38403680G>T	GRCh38
NC_000023.10:g.38262933G>T , CM000685.1:g.38262933G>T	GRCh37
NC_000023.9:g.38147877G>T	NCBI36
NG_008471.1:g.56198G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.603G>T MANE Select	ENSP00000039007.4:p.Leu201=
ENST00000643344.1:c.*353G>T	ENSP00000496606.1:n.*353G>T
ENST00000039007.4:c.603G>T	ENSP00000039007.4:p.Leu201=
ENST00000465127.1:c.172-262441G>T	ENSP00000417050.1:n.172-262441G>T
NM_000531.5:c.603G>T	NP_000522.3:p.Leu201=
XM_017029556.1:c.603G>T	XP_016885045.1:p.Leu201=
NM_000531.6:c.603G>T MANE Select	NP_000522.3:p.Leu201=