Canonical Allele Identifier: CA10385821

Gene: OTC

Linked Data

• dbSNP Id: rs376393166
• ExAC: X:38229139 A / C
• gnomAD v2: X-38229139-A-C
• gnomAD v4: X-38369886-A-C
• MyVariant Identifiers: chrX:g.38229139A>C (hg19) ; chrX:g.38369886A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369886A>C , CM000685.2:g.38369886A>C	GRCh38
NC_000023.10:g.38229139A>C , CM000685.1:g.38229139A>C	GRCh37
NC_000023.9:g.38114083A>C	NCBI36
NG_008471.1:g.22404A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.298+9A>C MANE Select	ENSP00000039007.4:n.298+9A>C
ENST00000643344.1:c.298+9A>C	ENSP00000496606.1:n.298+9A>C
ENST00000039007.4:c.298+9A>C	ENSP00000039007.4:n.298+9A>C
ENST00000465127.1:c.172-296235A>C	ENSP00000417050.1:n.172-296235A>C
ENST00000488812.1:n.353+46A>C
NM_000531.5:c.298+9A>C	NP_000522.3:n.298+9A>C
XM_017029556.1:c.298+9A>C	XP_016885045.1:n.298+9A>C
NM_000531.6:c.298+9A>C MANE Select	NP_000522.3:n.298+9A>C