Canonical Allele Identifier: CA640867321

Gene: OTC

Linked Data

• dbSNP Id: rs1312947443
• gnomAD v2: X-38260740-A-G
• gnomAD v3: X-38401487-A-G
• gnomAD v4: X-38401487-A-G
• MyVariant Identifiers: chrX:g.38260740A>G (hg19) ; chrX:g.38401487A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401487A>G , CM000685.2:g.38401487A>G	GRCh38
NC_000023.10:g.38260740A>G , CM000685.1:g.38260740A>G	GRCh37
NC_000023.9:g.38145684A>G	NCBI36
NG_008471.1:g.54005A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.540+59A>G MANE Select	ENSP00000039007.4:n.540+59A>G
ENST00000643344.1:c.*290+59A>G	ENSP00000496606.1:n.*290+59A>G
ENST00000039007.4:c.540+59A>G	ENSP00000039007.4:n.540+59A>G
ENST00000465127.1:c.172-264634A>G	ENSP00000417050.1:n.172-264634A>G
ENST00000488812.1:n.577+59A>G
NM_000531.5:c.540+59A>G	NP_000522.3:n.540+59A>G
XM_017029556.1:c.540+59A>G	XP_016885045.1:n.540+59A>G
NM_000531.6:c.540+59A>G MANE Select	NP_000522.3:n.540+59A>G