Canonical Allele Identifier: CA412717018
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38229117G>C (hg19) chrX:g.38369864G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369864G>C , CM000685.2:g.38369864G>C GRCh38
NC_000023.10:g.38229117G>C , CM000685.1:g.38229117G>C GRCh37
NC_000023.9:g.38114061G>C NCBI36
NG_008471.1:g.22382G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.285G>C MANE Select ENSP00000039007.4:p.Leu95Phe
ENST00000643344.1:c.285G>C ENSP00000496606.1:p.Leu95Phe
ENST00000039007.4:c.285G>C ENSP00000039007.4:p.Leu95Phe
ENST00000465127.1:c.172-296257G>C ENSP00000417050.1:n.172-296257G>C
ENST00000488812.1:n.353+24G>C
NM_000531.5:c.285G>C NP_000522.3:p.Leu95Phe
XM_017029556.1:c.285G>C XP_016885045.1:p.Leu95Phe
NM_000531.6:c.285G>C MANE Select NP_000522.3:p.Leu95Phe
Search 100 bp 5'
Search 100 bp 3'