Canonical Allele Identifier: CA515645716
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1619854
ClinVar RCV Id: RCV002089162
dbSNP Id: rs1356711812
gnomAD v4: X-38369823-T-C
MyVariant Identifiers: chrX:g.38229076T>C (hg19) chrX:g.38369823T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369823T>C , CM000685.2:g.38369823T>C GRCh38
NC_000023.10:g.38229076T>C , CM000685.1:g.38229076T>C GRCh37
NC_000023.9:g.38114020T>C NCBI36
NG_008471.1:g.22341T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.244T>C MANE Select ENSP00000039007.4:p.Leu82=
ENST00000643344.1:c.244T>C ENSP00000496606.1:p.Leu82=
ENST00000039007.4:c.244T>C ENSP00000039007.4:p.Leu82=
ENST00000465127.1:c.172-296298T>C ENSP00000417050.1:n.172-296298T>C
ENST00000488812.1:n.336T>C
NM_000531.5:c.244T>C NP_000522.3:p.Leu82=
XM_017029556.1:c.244T>C XP_016885045.1:p.Leu82=
NM_000531.6:c.244T>C MANE Select NP_000522.3:p.Leu82=
Search 100 bp 5'
Search 100 bp 3'