Canonical Allele Identifier: CA2739273401

Gene: OTC

Linked Data

• ClinVar Variation Id: 2899957
• ClinVar RCV Id: RCV003622037

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401445G>T , CM000685.2:g.38401445G>T	GRCh38
NC_000023.10:g.38260698G>T , CM000685.1:g.38260698G>T	GRCh37
NC_000023.9:g.38145642G>T	NCBI36
NG_008471.1:g.53963G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.540+17G>T MANE Select	ENSP00000039007.4:n.540+17G>T
ENST00000643344.1:c.*290+17G>T	ENSP00000496606.1:n.*290+17G>T
ENST00000039007.4:c.540+17G>T	ENSP00000039007.4:n.540+17G>T
ENST00000465127.1:c.172-264676G>T	ENSP00000417050.1:n.172-264676G>T
ENST00000488812.1:n.577+17G>T
NM_000531.5:c.540+17G>T	NP_000522.3:n.540+17G>T
XM_017029556.1:c.540+17G>T	XP_016885045.1:n.540+17G>T
NM_000531.6:c.540+17G>T MANE Select	NP_000522.3:n.540+17G>T