Canonical Allele Identifier: CA640860032

Gene: OTC

Linked Data

• dbSNP Id: rs1219422156
• gnomAD v2: X-38271083-G-A
• gnomAD v4: X-38411830-G-A
• MyVariant Identifiers: chrX:g.38271083G>A (hg19) ; chrX:g.38411830G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38411830G>A , CM000685.2:g.38411830G>A	GRCh38
NC_000023.10:g.38271083G>A , CM000685.1:g.38271083G>A	GRCh37
NC_000023.9:g.38156027G>A	NCBI36
NG_008471.1:g.64348G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.868-32G>A MANE Select	ENSP00000039007.4:n.868-32G>A
ENST00000643344.1:c.*618-32G>A	ENSP00000496606.1:n.*618-32G>A
ENST00000039007.4:c.868-32G>A	ENSP00000039007.4:n.868-32G>A
ENST00000465127.1:c.172-254291G>A	ENSP00000417050.1:n.172-254291G>A
NM_000531.5:c.868-32G>A	NP_000522.3:n.868-32G>A
XM_017029556.1:c.905G>A	XP_016885045.1:p.Ser302Asn
NM_000531.6:c.868-32G>A MANE Select	NP_000522.3:n.868-32G>A