Canonical Allele Identifier: CA2693443306

Gene: OTC

Linked Data

• gnomAD v4: X-38369696-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369696T>G , CM000685.2:g.38369696T>G	GRCh38
NC_000023.10:g.38228949T>G , CM000685.1:g.38228949T>G	GRCh37
NC_000023.9:g.38113893T>G	NCBI36
NG_008471.1:g.22214T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.217-100T>G MANE Select	ENSP00000039007.4:n.217-100T>G
ENST00000643344.1:c.217-100T>G	ENSP00000496606.1:n.217-100T>G
ENST00000039007.4:c.217-100T>G	ENSP00000039007.4:n.217-100T>G
ENST00000465127.1:c.172-296425T>G	ENSP00000417050.1:n.172-296425T>G
ENST00000488812.1:n.309-100T>G
NM_000531.5:c.217-100T>G	NP_000522.3:n.217-100T>G
XM_017029556.1:c.217-100T>G	XP_016885045.1:n.217-100T>G
NM_000531.6:c.217-100T>G MANE Select	NP_000522.3:n.217-100T>G