Canonical Allele Identifier: CA640867468

Gene: OTC

Linked Data

• dbSNP Id: rs1393307213
• gnomAD v2: X-38262844-T-C
• gnomAD v4: X-38403591-T-C
• MyVariant Identifiers: chrX:g.38262844T>C (hg19) ; chrX:g.38403591T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403591T>C , CM000685.2:g.38403591T>C	GRCh38
NC_000023.10:g.38262844T>C , CM000685.1:g.38262844T>C	GRCh37
NC_000023.9:g.38147788T>C	NCBI36
NG_008471.1:g.56109T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.541-27T>C MANE Select	ENSP00000039007.4:n.541-27T>C
ENST00000643344.1:c.*291-27T>C	ENSP00000496606.1:n.*291-27T>C
ENST00000039007.4:c.541-27T>C	ENSP00000039007.4:n.541-27T>C
ENST00000465127.1:c.172-262530T>C	ENSP00000417050.1:n.172-262530T>C
ENST00000488812.1:n.578-27T>C
NM_000531.5:c.541-27T>C	NP_000522.3:n.541-27T>C
XM_017029556.1:c.541-27T>C	XP_016885045.1:n.541-27T>C
NM_000531.6:c.541-27T>C MANE Select	NP_000522.3:n.541-27T>C