Canonical Allele Identifier: CA2693443385
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38369889-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369889G>C , CM000685.2:g.38369889G>C GRCh38
NC_000023.10:g.38229142G>C , CM000685.1:g.38229142G>C GRCh37
NC_000023.9:g.38114086G>C NCBI36
NG_008471.1:g.22407G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.298+12G>C MANE Select ENSP00000039007.4:n.298+12G>C
ENST00000643344.1:c.298+12G>C ENSP00000496606.1:n.298+12G>C
ENST00000039007.4:c.298+12G>C ENSP00000039007.4:n.298+12G>C
ENST00000465127.1:c.172-296232G>C ENSP00000417050.1:n.172-296232G>C
ENST00000488812.1:n.353+49G>C
NM_000531.5:c.298+12G>C NP_000522.3:n.298+12G>C
XM_017029556.1:c.298+12G>C XP_016885045.1:n.298+12G>C
NM_000531.6:c.298+12G>C MANE Select NP_000522.3:n.298+12G>C
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