Canonical Allele Identifier: CA640867305
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs1402364622
gnomAD v2: X-38260687-T-C
gnomAD v3: X-38401434-T-C
gnomAD v4: X-38401434-T-C
MyVariant Identifiers: chrX:g.38260687T>C (hg19) chrX:g.38401434T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401434T>C , CM000685.2:g.38401434T>C GRCh38
NC_000023.10:g.38260687T>C , CM000685.1:g.38260687T>C GRCh37
NC_000023.9:g.38145631T>C NCBI36
NG_008471.1:g.53952T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.540+6T>C MANE Select ENSP00000039007.4:n.540+6T>C
ENST00000643344.1:c.*290+6T>C ENSP00000496606.1:n.*290+6T>C
ENST00000039007.4:c.540+6T>C ENSP00000039007.4:n.540+6T>C
ENST00000465127.1:c.172-264687T>C ENSP00000417050.1:n.172-264687T>C
ENST00000488812.1:n.577+6T>C
NM_000531.5:c.540+6T>C NP_000522.3:n.540+6T>C
XM_017029556.1:c.540+6T>C XP_016885045.1:n.540+6T>C
NM_000531.6:c.540+6T>C MANE Select NP_000522.3:n.540+6T>C
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