Canonical Allele Identifier: CA2424884400
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs2068530509
gnomAD v4: X-38409050-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38409050G>T , CM000685.2:g.38409050G>T GRCh38
NC_000023.10:g.38268303G>T , CM000685.1:g.38268303G>T GRCh37
NC_000023.9:g.38153247G>T NCBI36
NG_008471.1:g.61568G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.867+25G>T MANE Select ENSP00000039007.4:n.867+25G>T
ENST00000643344.1:c.*617+25G>T ENSP00000496606.1:n.*617+25G>T
ENST00000039007.4:c.867+25G>T ENSP00000039007.4:n.867+25G>T
ENST00000465127.1:c.172-257071G>T ENSP00000417050.1:n.172-257071G>T
NM_000531.5:c.867+25G>T NP_000522.3:n.867+25G>T
XM_017029556.1:c.867+25G>T XP_016885045.1:n.867+25G>T
NM_000531.6:c.867+25G>T MANE Select NP_000522.3:n.867+25G>T
Search 100 bp 5'
Search 100 bp 3'