Canonical Allele Identifier: CA2424871636

Gene: OTC

Linked Data

• dbSNP Id: rs192825987

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369742A>C , CM000685.2:g.38369742A>C	GRCh38
NC_000023.10:g.38228995A>C , CM000685.1:g.38228995A>C	GRCh37
NC_000023.9:g.38113939A>C	NCBI36
NG_008471.1:g.22260A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.217-54A>C MANE Select	ENSP00000039007.4:n.217-54A>C
ENST00000643344.1:c.217-54A>C	ENSP00000496606.1:n.217-54A>C
ENST00000039007.4:c.217-54A>C	ENSP00000039007.4:n.217-54A>C
ENST00000465127.1:c.172-296379A>C	ENSP00000417050.1:n.172-296379A>C
ENST00000488812.1:n.309-54A>C
NM_000531.5:c.217-54A>C	NP_000522.3:n.217-54A>C
XM_017029556.1:c.217-54A>C	XP_016885045.1:n.217-54A>C
NM_000531.6:c.217-54A>C MANE Select	NP_000522.3:n.217-54A>C