Canonical Allele Identifier: CA10385935

Gene: OTC

Linked Data

• ClinVar Variation Id: 3070749
• ClinVar RCV Id: RCV004013259
• dbSNP Id: rs766049162
• ExAC: X:38268122 A / G
• gnomAD v2: X-38268122-A-G
• gnomAD v3: X-38408869-A-G
• gnomAD v4: X-38408869-A-G
• MyVariant Identifiers: chrX:g.38268122A>G (hg19) ; chrX:g.38408869A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408869A>G , CM000685.2:g.38408869A>G	GRCh38
NC_000023.10:g.38268122A>G , CM000685.1:g.38268122A>G	GRCh37
NC_000023.9:g.38153066A>G	NCBI36
NG_008471.1:g.61387A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.718-7A>G MANE Select	ENSP00000039007.4:n.718-7A>G
ENST00000643344.1:c.*468-7A>G	ENSP00000496606.1:n.*468-7A>G
ENST00000039007.4:c.718-7A>G	ENSP00000039007.4:n.718-7A>G
ENST00000465127.1:c.172-257252A>G	ENSP00000417050.1:n.172-257252A>G
NM_000531.5:c.718-7A>G	NP_000522.3:n.718-7A>G
XM_017029556.1:c.718-7A>G	XP_016885045.1:n.718-7A>G
NM_000531.6:c.718-7A>G MANE Select	NP_000522.3:n.718-7A>G