Canonical Allele Identifier: CA875149862

Gene: OTC

Linked Data

• dbSNP Id: rs5917586
• gnomAD v3: X-38381324-C-A
• gnomAD v4: X-38381324-C-A
• MyVariant Identifiers: chrX:g.38240577C>A (hg19) ; chrX:g.38381324C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38381324C>A , CM000685.2:g.38381324C>A	GRCh38
NC_000023.10:g.38240577C>A , CM000685.1:g.38240577C>A	GRCh37
NC_000023.9:g.38125521C>A	NCBI36
NG_008471.1:g.33842C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.299-18C>A MANE Select	ENSP00000039007.4:n.299-18C>A
ENST00000643344.1:c.*49-18C>A	ENSP00000496606.1:n.*49-18C>A
ENST00000039007.4:c.299-18C>A	ENSP00000039007.4:n.299-18C>A
ENST00000465127.1:c.172-284797C>A	ENSP00000417050.1:n.172-284797C>A
ENST00000488812.1:n.354-36C>A
NM_000531.5:c.299-18C>A	NP_000522.3:n.299-18C>A
XM_017029556.1:c.299-18C>A	XP_016885045.1:n.299-18C>A
NM_000531.6:c.299-18C>A MANE Select	NP_000522.3:n.299-18C>A