Canonical Allele Identifier: CA224789

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408948A>G , CM000685.2:g.38408948A>G	GRCh38
NC_000023.10:g.38268201A>G , CM000685.1:g.38268201A>G	GRCh37
NC_000023.9:g.38153145A>G	NCBI36
NG_008471.1:g.61466A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000531.6:c.790A>G MANE Select	NP_000522.3:p.Thr264Ala
ENST00000039007.5:c.790A>G MANE Select	ENSP00000039007.4:p.Thr264Ala
NM_000531.5:c.790A>G	NP_000522.3:p.Thr264Ala
ENST00000039007.4:c.790A>G	ENSP00000039007.4:p.Thr264Ala
ENST00000465127.1:c.172-257173A>G	ENSP00000417050.1:n.172-257173A>G
ENST00000643344.1:c.*540A>G	ENSP00000496606.1:n.*540A>G
XM_017029556.1:c.790A>G	XP_016885045.1:p.Thr264Ala