Canonical Allele Identifier: CA327944346

Gene: OTC

Linked Data

• dbSNP Id: rs200614453
• MyVariant Identifiers: chrX:g.38262697_38262698insGAT (hg19) ; chrX:g.38403444_38403445insGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403445_38403447dup , CM000685.2:g.38403445_38403447dup	GRCh38
NC_000023.10:g.38262698_38262700dup , CM000685.1:g.38262698_38262700dup	GRCh37
NC_000023.9:g.38147642_38147644dup	NCBI36
NG_008471.1:g.55963_55965dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.541-173_541-171dup MANE Select	ENSP00000039007.4:n.541-173_541-171dup
ENST00000643344.1:c.*291-173_*291-171dup	ENSP00000496606.1:n.*291-173_*291-171dup
ENST00000039007.4:c.541-173_541-171dup	ENSP00000039007.4:n.541-173_541-171dup
ENST00000465127.1:c.172-262676_172-262674dup	ENSP00000417050.1:n.172-262676_172-262674dup
ENST00000488812.1:n.578-173_578-171dup
NM_000531.5:c.541-173_541-171dup	NP_000522.3:n.541-173_541-171dup
XM_017029556.1:c.541-173_541-171dup	XP_016885045.1:n.541-173_541-171dup
NM_000531.6:c.541-173_541-171dup MANE Select	NP_000522.3:n.541-173_541-171dup