Canonical Allele Identifier: CA2424881780

Gene: OTC

Linked Data

• dbSNP Id: rs2068483457

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401210T>C , CM000685.2:g.38401210T>C	GRCh38
NC_000023.10:g.38260463T>C , CM000685.1:g.38260463T>C	GRCh37
NC_000023.9:g.38145407T>C	NCBI36
NG_008471.1:g.53728T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.387-65T>C MANE Select	ENSP00000039007.4:n.387-65T>C
ENST00000643344.1:c.*137-65T>C	ENSP00000496606.1:n.*137-65T>C
ENST00000039007.4:c.387-65T>C	ENSP00000039007.4:n.387-65T>C
ENST00000465127.1:c.172-264911T>C	ENSP00000417050.1:n.172-264911T>C
ENST00000488812.1:n.424-65T>C
NM_000531.5:c.387-65T>C	NP_000522.3:n.387-65T>C
XM_017029556.1:c.387-65T>C	XP_016885045.1:n.387-65T>C
NM_000531.6:c.387-65T>C MANE Select	NP_000522.3:n.387-65T>C