Canonical Allele Identifier: CA412716751
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 915470
ClinVar RCV Id: RCV001170079
dbSNP Id: rs2068314699
gnomAD v4: X-38369794-A-G
MyVariant Identifiers: chrX:g.38229047A>G (hg19) chrX:g.38369794A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369794A>G , CM000685.2:g.38369794A>G GRCh38
NC_000023.10:g.38229047A>G , CM000685.1:g.38229047A>G GRCh37
NC_000023.9:g.38113991A>G NCBI36
NG_008471.1:g.22312A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.217-2A>G MANE Select ENSP00000039007.4:n.217-2A>G
ENST00000643344.1:c.217-2A>G ENSP00000496606.1:n.217-2A>G
ENST00000039007.4:c.217-2A>G ENSP00000039007.4:n.217-2A>G
ENST00000465127.1:c.172-296327A>G ENSP00000417050.1:n.172-296327A>G
ENST00000488812.1:n.309-2A>G
NM_000531.5:c.217-2A>G NP_000522.3:n.217-2A>G
XM_017029556.1:c.217-2A>G XP_016885045.1:n.217-2A>G
NM_000531.6:c.217-2A>G MANE Select NP_000522.3:n.217-2A>G
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