Canonical Allele Identifier: CA515642678
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs1411406086
gnomAD v2: X-38271138-C-T
gnomAD v4: X-38411885-C-T
MyVariant Identifiers: chrX:g.38271138C>T (hg19) chrX:g.38411885C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411885C>T , CM000685.2:g.38411885C>T GRCh38
NC_000023.10:g.38271138C>T , CM000685.1:g.38271138C>T GRCh37
NC_000023.9:g.38156082C>T NCBI36
NG_008471.1:g.64403C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.891C>T MANE Select ENSP00000039007.4:p.Asp297=
ENST00000643344.1:c.*641C>T ENSP00000496606.1:n.*641C>T
ENST00000039007.4:c.891C>T ENSP00000039007.4:p.Asp297=
ENST00000465127.1:c.172-254236C>T ENSP00000417050.1:n.172-254236C>T
NM_000531.5:c.891C>T NP_000522.3:p.Asp297=
NM_000531.6:c.891C>T MANE Select NP_000522.3:p.Asp297=
Search 100 bp 5'
Search 100 bp 3'