Canonical Allele Identifier: CA10385914
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 2969561
ClinVar RCV Id: RCV003821695
dbSNP Id: rs753921618
ExAC: X:38267988 C / T
gnomAD v2: X-38267988-C-T
gnomAD v4: X-38408735-C-T
MyVariant Identifiers: chrX:g.38267988C>T (hg19) chrX:g.38408735C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408735C>T , CM000685.2:g.38408735C>T GRCh38
NC_000023.10:g.38267988C>T , CM000685.1:g.38267988C>T GRCh37
NC_000023.9:g.38152932C>T NCBI36
NG_008471.1:g.61253C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.664-7C>T MANE Select ENSP00000039007.4:n.664-7C>T
ENST00000643344.1:c.*414-7C>T ENSP00000496606.1:n.*414-7C>T
ENST00000039007.4:c.664-7C>T ENSP00000039007.4:n.664-7C>T
ENST00000465127.1:c.172-257386C>T ENSP00000417050.1:n.172-257386C>T
NM_000531.5:c.664-7C>T NP_000522.3:n.664-7C>T
XM_017029556.1:c.664-7C>T XP_016885045.1:n.664-7C>T
NM_000531.6:c.664-7C>T MANE Select NP_000522.3:n.664-7C>T
Search 100 bp 5'
Search 100 bp 3'