Canonical Allele Identifier: CA412725896
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38271158T>C (hg19) chrX:g.38411905T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411905T>C , CM000685.2:g.38411905T>C GRCh38
NC_000023.10:g.38271158T>C , CM000685.1:g.38271158T>C GRCh37
NC_000023.9:g.38156102T>C NCBI36
NG_008471.1:g.64423T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.911T>C MANE Select ENSP00000039007.4:p.Leu304Ser
ENST00000643344.1:c.*661T>C ENSP00000496606.1:n.*661T>C
ENST00000039007.4:c.911T>C ENSP00000039007.4:p.Leu304Ser
ENST00000465127.1:c.172-254216T>C ENSP00000417050.1:n.172-254216T>C
NM_000531.5:c.911T>C NP_000522.3:p.Leu304Ser
NM_000531.6:c.911T>C MANE Select NP_000522.3:p.Leu304Ser
Search 100 bp 5'
Search 100 bp 3'