Canonical Allele Identifier: CA327944364

Gene: OTC

Linked Data

• dbSNP Id: rs34953584
• MyVariant Identifiers: chrX:g.38262699_38262700insATT (hg19) ; chrX:g.38403446_38403447insATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403446_38403447insATT , CM000685.2:g.38403446_38403447insATT	GRCh38
NC_000023.10:g.38262699_38262700insATT , CM000685.1:g.38262699_38262700insATT	GRCh37
NC_000023.9:g.38147643_38147644insATT	NCBI36
NG_008471.1:g.55964_55965insATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.541-172_541-171insATT MANE Select	ENSP00000039007.4:n.541-172_541-171insATT
ENST00000643344.1:c.*291-172_*291-171insATT	ENSP00000496606.1:n.*291-172_*291-171insATT
ENST00000039007.4:c.541-172_541-171insATT	ENSP00000039007.4:n.541-172_541-171insATT
ENST00000465127.1:c.172-262675_172-262674insATT	ENSP00000417050.1:n.172-262675_172-262674insATT
ENST00000488812.1:n.578-172_578-171insATT
NM_000531.5:c.541-172_541-171insATT	NP_000522.3:n.541-172_541-171insATT
XM_017029556.1:c.541-172_541-171insATT	XP_016885045.1:n.541-172_541-171insATT
NM_000531.6:c.541-172_541-171insATT MANE Select	NP_000522.3:n.541-172_541-171insATT