Canonical Allele Identifier: CA2579584853

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403836T>A , CM000685.2:g.38403836T>A	GRCh38
NC_000023.10:g.38263089T>A , CM000685.1:g.38263089T>A	GRCh37
NC_000023.9:g.38148033T>A	NCBI36
NG_008471.1:g.56354T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.663+96T>A MANE Select	ENSP00000039007.4:n.663+96T>A
ENST00000643344.1:c.*413+96T>A	ENSP00000496606.1:n.*413+96T>A
ENST00000039007.4:c.663+96T>A	ENSP00000039007.4:n.663+96T>A
ENST00000465127.1:c.172-262285T>A	ENSP00000417050.1:n.172-262285T>A
NM_000531.5:c.663+96T>A	NP_000522.3:n.663+96T>A
XM_017029556.1:c.663+96T>A	XP_016885045.1:n.663+96T>A
NM_000531.6:c.663+96T>A MANE Select	NP_000522.3:n.663+96T>A