Canonical Allele Identifier: CA2424870864

Gene: OTC

Linked Data

• dbSNP Id: rs2068302677

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367454T>C , CM000685.2:g.38367454T>C	GRCh38
NC_000023.10:g.38226707T>C , CM000685.1:g.38226707T>C	GRCh37
NC_000023.9:g.38111651T>C	NCBI36
NG_008471.1:g.19972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.216+25T>C MANE Select	ENSP00000039007.4:n.216+25T>C
ENST00000643344.1:c.216+25T>C	ENSP00000496606.1:n.216+25T>C
ENST00000039007.4:c.216+25T>C	ENSP00000039007.4:n.216+25T>C
ENST00000465127.1:c.172-298667T>C	ENSP00000417050.1:n.172-298667T>C
ENST00000488812.1:n.308+25T>C
NM_000531.5:c.216+25T>C	NP_000522.3:n.216+25T>C
XM_017029556.1:c.216+25T>C	XP_016885045.1:n.216+25T>C
NM_000531.6:c.216+25T>C MANE Select	NP_000522.3:n.216+25T>C