Canonical Allele Identifier: CA248002

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38411864T>C , CM000685.2:g.38411864T>C	GRCh38
NC_000023.10:g.38271117T>C , CM000685.1:g.38271117T>C	GRCh37
NC_000023.9:g.38156061T>C	NCBI36
NG_008471.1:g.64382T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000531.6:c.870T>C MANE Select	NP_000522.3:p.Thr290=
ENST00000039007.5:c.870T>C MANE Select	ENSP00000039007.4:p.Thr290=
NM_000531.5:c.870T>C	NP_000522.3:p.Thr290=
ENST00000039007.4:c.870T>C	ENSP00000039007.4:p.Thr290=
ENST00000465127.1:c.172-254257T>C	ENSP00000417050.1:n.172-254257T>C
ENST00000643344.1:c.*620T>C	ENSP00000496606.1:n.*620T>C
XM_017029556.1:c.*3T>C	XP_016885045.1:n.*3T>C