Canonical Allele Identifier: CA640947389
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs1181116146
gnomAD v2: X-38267910-C-T
gnomAD v3: X-38408657-C-T
gnomAD v4: X-38408657-C-T
MyVariant Identifiers: chrX:g.38267910C>T (hg19) chrX:g.38408657C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408657C>T , CM000685.2:g.38408657C>T GRCh38
NC_000023.10:g.38267910C>T , CM000685.1:g.38267910C>T GRCh37
NC_000023.9:g.38152854C>T NCBI36
NG_008471.1:g.61175C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.664-85C>T MANE Select ENSP00000039007.4:n.664-85C>T
ENST00000643344.1:c.*414-85C>T ENSP00000496606.1:n.*414-85C>T
ENST00000039007.4:c.664-85C>T ENSP00000039007.4:n.664-85C>T
ENST00000465127.1:c.172-257464C>T ENSP00000417050.1:n.172-257464C>T
NM_000531.5:c.664-85C>T NP_000522.3:n.664-85C>T
XM_017029556.1:c.664-85C>T XP_016885045.1:n.664-85C>T
NM_000531.6:c.664-85C>T MANE Select NP_000522.3:n.664-85C>T
Search 100 bp 5'
Search 100 bp 3'