Canonical Allele Identifier: CA875145023
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs1463844347
MyVariant Identifiers: chrX:g.38229384A>G (hg19) chrX:g.38370131A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38370131A>G , CM000685.2:g.38370131A>G GRCh38
NC_000023.10:g.38229384A>G , CM000685.1:g.38229384A>G GRCh37
NC_000023.9:g.38114328A>G NCBI36
NG_008471.1:g.22649A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.298+254A>G MANE Select ENSP00000039007.4:n.298+254A>G
ENST00000643344.1:c.298+254A>G ENSP00000496606.1:n.298+254A>G
ENST00000039007.4:c.298+254A>G ENSP00000039007.4:n.298+254A>G
ENST00000465127.1:c.172-295990A>G ENSP00000417050.1:n.172-295990A>G
ENST00000488812.1:n.353+291A>G
NM_000531.5:c.298+254A>G NP_000522.3:n.298+254A>G
XM_017029556.1:c.298+254A>G XP_016885045.1:n.298+254A>G
NM_000531.6:c.298+254A>G MANE Select NP_000522.3:n.298+254A>G
Search 100 bp 5'
Search 100 bp 3'