Canonical Allele Identifier: CA10385823

Gene: OTC

Linked Data

• dbSNP Id: rs776886047
• ExAC: X:38229151 A / G
• gnomAD v2: X-38229151-A-G
• gnomAD v3: X-38369898-A-G
• gnomAD v4: X-38369898-A-G
• MyVariant Identifiers: chrX:g.38229151A>G (hg19) ; chrX:g.38369898A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369898A>G , CM000685.2:g.38369898A>G	GRCh38
NC_000023.10:g.38229151A>G , CM000685.1:g.38229151A>G	GRCh37
NC_000023.9:g.38114095A>G	NCBI36
NG_008471.1:g.22416A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.298+21A>G MANE Select	ENSP00000039007.4:n.298+21A>G
ENST00000643344.1:c.298+21A>G	ENSP00000496606.1:n.298+21A>G
ENST00000039007.4:c.298+21A>G	ENSP00000039007.4:n.298+21A>G
ENST00000465127.1:c.172-296223A>G	ENSP00000417050.1:n.172-296223A>G
ENST00000488812.1:n.353+58A>G
NM_000531.5:c.298+21A>G	NP_000522.3:n.298+21A>G
XM_017029556.1:c.298+21A>G	XP_016885045.1:n.298+21A>G
NM_000531.6:c.298+21A>G MANE Select	NP_000522.3:n.298+21A>G