Canonical Allele Identifier: CA412725734
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38411889-A-G
MyVariant Identifiers: chrX:g.38271142A>G (hg19) chrX:g.38411889A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411889A>G , CM000685.2:g.38411889A>G GRCh38
NC_000023.10:g.38271142A>G , CM000685.1:g.38271142A>G GRCh37
NC_000023.9:g.38156086A>G NCBI36
NG_008471.1:g.64407A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.895A>G MANE Select ENSP00000039007.4:p.Thr299Ala
ENST00000643344.1:c.*645A>G ENSP00000496606.1:n.*645A>G
ENST00000039007.4:c.895A>G ENSP00000039007.4:p.Thr299Ala
ENST00000465127.1:c.172-254232A>G ENSP00000417050.1:n.172-254232A>G
NM_000531.5:c.895A>G NP_000522.3:p.Thr299Ala
NM_000531.6:c.895A>G MANE Select NP_000522.3:p.Thr299Ala
Search 100 bp 5'
Search 100 bp 3'