Canonical Allele Identifier: CA224547

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38352698T>C , CM000685.2:g.38352698T>C	GRCh38
NC_000023.10:g.38211951T>C , CM000685.1:g.38211951T>C	GRCh37
NC_000023.9:g.38096895T>C	NCBI36
NG_008471.1:g.5216T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000531.6:c.2T>C MANE Select	NP_000522.3:p.Met1Thr
ENST00000039007.5:c.2T>C MANE Select	ENSP00000039007.4:p.Met1Thr
NM_000531.5:c.2T>C	NP_000522.3:p.Met1Thr
ENST00000039007.4:c.2T>C	ENSP00000039007.4:p.Met1Thr
ENST00000465127.1:c.172-313423T>C	ENSP00000417050.1:n.172-313423T>C
ENST00000488812.1:n.94T>C
ENST00000643344.1:c.2T>C	ENSP00000496606.1:p.Met1Thr
XM_017029556.1:c.2T>C	XP_016885045.1:p.Met1Thr