Canonical Allele Identifier: CA412723261
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 913762
ClinVar RCV Id: RCV001167557
dbSNP Id: rs2068530106
gnomAD v4: X-38408972-G-A
MyVariant Identifiers: chrX:g.38268225G>A (hg19) chrX:g.38408972G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408972G>A , CM000685.2:g.38408972G>A GRCh38
NC_000023.10:g.38268225G>A , CM000685.1:g.38268225G>A GRCh37
NC_000023.9:g.38153169G>A NCBI36
NG_008471.1:g.61490G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.814G>A MANE Select ENSP00000039007.4:p.Glu272Lys
ENST00000643344.1:c.*564G>A ENSP00000496606.1:n.*564G>A
ENST00000039007.4:c.814G>A ENSP00000039007.4:p.Glu272Lys
ENST00000465127.1:c.172-257149G>A ENSP00000417050.1:n.172-257149G>A
NM_000531.5:c.814G>A NP_000522.3:p.Glu272Lys
XM_017029556.1:c.814G>A XP_016885045.1:p.Glu272Lys
NM_000531.6:c.814G>A MANE Select NP_000522.3:p.Glu272Lys
Search 100 bp 5'
Search 100 bp 3'