Canonical Allele Identifier: CA2693442916

Gene: OTC

Linked Data

• gnomAD v4: X-38401513-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401513G>T , CM000685.2:g.38401513G>T	GRCh38
NC_000023.10:g.38260766G>T , CM000685.1:g.38260766G>T	GRCh37
NC_000023.9:g.38145710G>T	NCBI36
NG_008471.1:g.54031G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.540+85G>T MANE Select	ENSP00000039007.4:n.540+85G>T
ENST00000643344.1:c.*290+85G>T	ENSP00000496606.1:n.*290+85G>T
ENST00000039007.4:c.540+85G>T	ENSP00000039007.4:n.540+85G>T
ENST00000465127.1:c.172-264608G>T	ENSP00000417050.1:n.172-264608G>T
ENST00000488812.1:n.577+85G>T
NM_000531.5:c.540+85G>T	NP_000522.3:n.540+85G>T
XM_017029556.1:c.540+85G>T	XP_016885045.1:n.540+85G>T
NM_000531.6:c.540+85G>T MANE Select	NP_000522.3:n.540+85G>T