Canonical Allele Identifier: CA327925379
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1137218
ClinVar RCV Id: RCV001473122
dbSNP Id: rs924740805
gnomAD v3: X-38367384-A-G
gnomAD v4: X-38367384-A-G
MyVariant Identifiers: chrX:g.38226637A>G (hg19) chrX:g.38367384A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367384A>G , CM000685.2:g.38367384A>G GRCh38
NC_000023.10:g.38226637A>G , CM000685.1:g.38226637A>G GRCh37
NC_000023.9:g.38111581A>G NCBI36
NG_008471.1:g.19902A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.171A>G MANE Select ENSP00000039007.4:p.Leu57=
ENST00000643344.1:c.171A>G ENSP00000496606.1:p.Leu57=
ENST00000039007.4:c.171A>G ENSP00000039007.4:p.Leu57=
ENST00000465127.1:c.172-298737A>G ENSP00000417050.1:n.172-298737A>G
ENST00000488812.1:n.263A>G
NM_000531.5:c.171A>G NP_000522.3:p.Leu57=
XM_017029556.1:c.171A>G XP_016885045.1:p.Leu57=
NM_000531.6:c.171A>G MANE Select NP_000522.3:p.Leu57=
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Search 100 bp 3'