Canonical Allele Identifier: CA412726582
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38271214G>C (hg19) chrX:g.38411961G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411961G>C , CM000685.2:g.38411961G>C GRCh38
NC_000023.10:g.38271214G>C , CM000685.1:g.38271214G>C GRCh37
NC_000023.9:g.38156158G>C NCBI36
NG_008471.1:g.64479G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.967G>C MANE Select ENSP00000039007.4:p.Val323Leu
ENST00000643344.1:c.*717G>C ENSP00000496606.1:n.*717G>C
ENST00000039007.4:c.967G>C ENSP00000039007.4:p.Val323Leu
ENST00000465127.1:c.172-254160G>C ENSP00000417050.1:n.172-254160G>C
NM_000531.5:c.967G>C NP_000522.3:p.Val323Leu
NM_000531.6:c.967G>C MANE Select NP_000522.3:p.Val323Leu
Search 100 bp 5'
Search 100 bp 3'