Canonical Allele Identifier: CA10385952

Gene: OTC

Linked Data

• dbSNP Id: rs759373185
• ExAC: X:38271089 A / G
• gnomAD v2: X-38271089-A-G
• MyVariant Identifiers: chrX:g.38271089A>G (hg19) ; chrX:g.38411836A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38411836A>G , CM000685.2:g.38411836A>G	GRCh38
NC_000023.10:g.38271089A>G , CM000685.1:g.38271089A>G	GRCh37
NC_000023.9:g.38156033A>G	NCBI36
NG_008471.1:g.64354A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.868-26A>G MANE Select	ENSP00000039007.4:n.868-26A>G
ENST00000643344.1:c.*618-26A>G	ENSP00000496606.1:n.*618-26A>G
ENST00000039007.4:c.868-26A>G	ENSP00000039007.4:n.868-26A>G
ENST00000465127.1:c.172-254285A>G	ENSP00000417050.1:n.172-254285A>G
NM_000531.5:c.868-26A>G	NP_000522.3:n.868-26A>G
XM_017029556.1:c.911A>G	XP_016885045.1:p.Lys304Arg
NM_000531.6:c.868-26A>G MANE Select	NP_000522.3:n.868-26A>G