Canonical Allele Identifier: CA2424882598

Gene: OTC

Linked Data

• dbSNP Id: rs2068499255

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403433C>G , CM000685.2:g.38403433C>G	GRCh38
NC_000023.10:g.38262686C>G , CM000685.1:g.38262686C>G	GRCh37
NC_000023.9:g.38147630C>G	NCBI36
NG_008471.1:g.55951C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.541-185C>G MANE Select	ENSP00000039007.4:n.541-185C>G
ENST00000643344.1:c.*291-185C>G	ENSP00000496606.1:n.*291-185C>G
ENST00000039007.4:c.541-185C>G	ENSP00000039007.4:n.541-185C>G
ENST00000465127.1:c.172-262688C>G	ENSP00000417050.1:n.172-262688C>G
ENST00000488812.1:n.578-185C>G
NM_000531.5:c.541-185C>G	NP_000522.3:n.541-185C>G
XM_017029556.1:c.541-185C>G	XP_016885045.1:n.541-185C>G
NM_000531.6:c.541-185C>G MANE Select	NP_000522.3:n.541-185C>G