Canonical Allele Identifier: CA327927424
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs927574226
gnomAD v3: X-38370245-G-C
gnomAD v4: X-38370245-G-C
MyVariant Identifiers: chrX:g.38229498G>C (hg19) chrX:g.38370245G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38370245G>C , CM000685.2:g.38370245G>C GRCh38
NC_000023.10:g.38229498G>C , CM000685.1:g.38229498G>C GRCh37
NC_000023.9:g.38114442G>C NCBI36
NG_008471.1:g.22763G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.298+368G>C MANE Select ENSP00000039007.4:n.298+368G>C
ENST00000643344.1:c.298+368G>C ENSP00000496606.1:n.298+368G>C
ENST00000039007.4:c.298+368G>C ENSP00000039007.4:n.298+368G>C
ENST00000465127.1:c.172-295876G>C ENSP00000417050.1:n.172-295876G>C
ENST00000488812.1:n.353+405G>C
NM_000531.5:c.298+368G>C NP_000522.3:n.298+368G>C
XM_017029556.1:c.298+368G>C XP_016885045.1:n.298+368G>C
NM_000531.6:c.298+368G>C MANE Select NP_000522.3:n.298+368G>C
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