Canonical Allele Identifier: CA640863723

Gene: OTC

Linked Data

• dbSNP Id: rs780758301
• gnomAD v2: X-38229520-C-T
• gnomAD v3: X-38370267-C-T
• gnomAD v4: X-38370267-C-T
• MyVariant Identifiers: chrX:g.38229520C>T (hg19) ; chrX:g.38370267C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38370267C>T , CM000685.2:g.38370267C>T	GRCh38
NC_000023.10:g.38229520C>T , CM000685.1:g.38229520C>T	GRCh37
NC_000023.9:g.38114464C>T	NCBI36
NG_008471.1:g.22785C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.298+390C>T MANE Select	ENSP00000039007.4:n.298+390C>T
ENST00000643344.1:c.298+390C>T	ENSP00000496606.1:n.298+390C>T
ENST00000039007.4:c.298+390C>T	ENSP00000039007.4:n.298+390C>T
ENST00000465127.1:c.172-295854C>T	ENSP00000417050.1:n.172-295854C>T
ENST00000488812.1:n.353+427C>T
NM_000531.5:c.298+390C>T	NP_000522.3:n.298+390C>T
XM_017029556.1:c.298+390C>T	XP_016885045.1:n.298+390C>T
NM_000531.6:c.298+390C>T MANE Select	NP_000522.3:n.298+390C>T