Canonical Allele Identifier: CA2693442216
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38367242-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367242G>C , CM000685.2:g.38367242G>C GRCh38
NC_000023.10:g.38226495G>C , CM000685.1:g.38226495G>C GRCh37
NC_000023.9:g.38111439G>C NCBI36
NG_008471.1:g.19760G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.78-49G>C MANE Select ENSP00000039007.4:n.78-49G>C
ENST00000643344.1:c.78-49G>C ENSP00000496606.1:n.78-49G>C
ENST00000039007.4:c.78-49G>C ENSP00000039007.4:n.78-49G>C
ENST00000465127.1:c.172-298879G>C ENSP00000417050.1:n.172-298879G>C
ENST00000488812.1:n.170-49G>C
NM_000531.5:c.78-49G>C NP_000522.3:n.78-49G>C
XM_017029556.1:c.78-49G>C XP_016885045.1:n.78-49G>C
NM_000531.6:c.78-49G>C MANE Select NP_000522.3:n.78-49G>C
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