Canonical Allele Identifier: CA515642692
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38271147T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411894T>C , CM000685.2:g.38411894T>C GRCh38
NC_000023.10:g.38271147T>C , CM000685.1:g.38271147T>C GRCh37
NC_000023.9:g.38156091T>C NCBI36
NG_008471.1:g.64412T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.900T>C MANE Select ENSP00000039007.4:p.Phe300=
ENST00000643344.1:c.*650T>C ENSP00000496606.1:n.*650T>C
ENST00000039007.4:c.900T>C ENSP00000039007.4:p.Phe300=
ENST00000465127.1:c.172-254227T>C ENSP00000417050.1:n.172-254227T>C
NM_000531.5:c.900T>C NP_000522.3:p.Phe300=
NM_000531.6:c.900T>C MANE Select NP_000522.3:p.Phe300=
Search 100 bp 5'
Search 100 bp 3'