Canonical Allele Identifier: CA327944400

Gene: OTC

Linked Data

• dbSNP Id: rs910340085
• gnomAD v3: X-38403562-C-T
• gnomAD v4: X-38403562-C-T
• MyVariant Identifiers: chrX:g.38262815C>T (hg19) ; chrX:g.38403562C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403562C>T , CM000685.2:g.38403562C>T	GRCh38
NC_000023.10:g.38262815C>T , CM000685.1:g.38262815C>T	GRCh37
NC_000023.9:g.38147759C>T	NCBI36
NG_008471.1:g.56080C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.541-56C>T MANE Select	ENSP00000039007.4:n.541-56C>T
ENST00000643344.1:c.*291-56C>T	ENSP00000496606.1:n.*291-56C>T
ENST00000039007.4:c.541-56C>T	ENSP00000039007.4:n.541-56C>T
ENST00000465127.1:c.172-262559C>T	ENSP00000417050.1:n.172-262559C>T
ENST00000488812.1:n.578-56C>T
NM_000531.5:c.541-56C>T	NP_000522.3:n.541-56C>T
XM_017029556.1:c.541-56C>T	XP_016885045.1:n.541-56C>T
NM_000531.6:c.541-56C>T MANE Select	NP_000522.3:n.541-56C>T