Canonical Allele Identifier: CA640867308

Gene: OTC

Linked Data

• dbSNP Id: rs1437727893
• gnomAD v2: X-38260693-T-G
• gnomAD v3: X-38401440-T-G
• gnomAD v4: X-38401440-T-G
• MyVariant Identifiers: chrX:g.38260693T>G (hg19) ; chrX:g.38401440T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401440T>G , CM000685.2:g.38401440T>G	GRCh38
NC_000023.10:g.38260693T>G , CM000685.1:g.38260693T>G	GRCh37
NC_000023.9:g.38145637T>G	NCBI36
NG_008471.1:g.53958T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.540+12T>G MANE Select	ENSP00000039007.4:n.540+12T>G
ENST00000643344.1:c.*290+12T>G	ENSP00000496606.1:n.*290+12T>G
ENST00000039007.4:c.540+12T>G	ENSP00000039007.4:n.540+12T>G
ENST00000465127.1:c.172-264681T>G	ENSP00000417050.1:n.172-264681T>G
ENST00000488812.1:n.577+12T>G
NM_000531.5:c.540+12T>G	NP_000522.3:n.540+12T>G
XM_017029556.1:c.540+12T>G	XP_016885045.1:n.540+12T>G
NM_000531.6:c.540+12T>G MANE Select	NP_000522.3:n.540+12T>G