Canonical Allele Identifier: CA640863717

Gene: OTC

Linked Data

• dbSNP Id: rs1156616269
• gnomAD v2: X-38229430-G-A
• gnomAD v3: X-38370177-G-A
• gnomAD v4: X-38370177-G-A
• MyVariant Identifiers: chrX:g.38229430G>A (hg19) ; chrX:g.38370177G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38370177G>A , CM000685.2:g.38370177G>A	GRCh38
NC_000023.10:g.38229430G>A , CM000685.1:g.38229430G>A	GRCh37
NC_000023.9:g.38114374G>A	NCBI36
NG_008471.1:g.22695G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.298+300G>A MANE Select	ENSP00000039007.4:n.298+300G>A
ENST00000643344.1:c.298+300G>A	ENSP00000496606.1:n.298+300G>A
ENST00000039007.4:c.298+300G>A	ENSP00000039007.4:n.298+300G>A
ENST00000465127.1:c.172-295944G>A	ENSP00000417050.1:n.172-295944G>A
ENST00000488812.1:n.353+337G>A
NM_000531.5:c.298+300G>A	NP_000522.3:n.298+300G>A
XM_017029556.1:c.298+300G>A	XP_016885045.1:n.298+300G>A
NM_000531.6:c.298+300G>A MANE Select	NP_000522.3:n.298+300G>A