Canonical Allele Identifier: CA1132412330

Gene: OTC

Linked Data

• gnomAD v3: X-38367174-C-CAAA
• gnomAD v4: X-38367174-C-CAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367186_38367188dup , CM000685.2:g.38367186_38367188dup	GRCh38
NC_000023.10:g.38226439_38226441dup , CM000685.1:g.38226439_38226441dup	GRCh37
NC_000023.9:g.38111383_38111385dup	NCBI36
NG_008471.1:g.19704_19706dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.78-105_78-103dup MANE Select	ENSP00000039007.4:n.78-105_78-103dup
ENST00000643344.1:c.78-105_78-103dup	ENSP00000496606.1:n.78-105_78-103dup
ENST00000039007.4:c.78-105_78-103dup	ENSP00000039007.4:n.78-105_78-103dup
ENST00000465127.1:c.172-298935_172-298933dup	ENSP00000417050.1:n.172-298935_172-298933...
ENST00000488812.1:n.170-105_170-103dup
NM_000531.5:c.78-105_78-103dup	NP_000522.3:n.78-105_78-103dup
XM_017029556.1:c.78-105_78-103dup	XP_016885045.1:n.78-105_78-103dup
NM_000531.6:c.78-105_78-103dup MANE Select	NP_000522.3:n.78-105_78-103dup