Canonical Allele Identifier: CA1132413505
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs2068314353
gnomAD v3: X-38369698-G-T
gnomAD v4: X-38369698-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369698G>T , CM000685.2:g.38369698G>T GRCh38
NC_000023.10:g.38228951G>T , CM000685.1:g.38228951G>T GRCh37
NC_000023.9:g.38113895G>T NCBI36
NG_008471.1:g.22216G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.217-98G>T MANE Select ENSP00000039007.4:n.217-98G>T
ENST00000643344.1:c.217-98G>T ENSP00000496606.1:n.217-98G>T
ENST00000039007.4:c.217-98G>T ENSP00000039007.4:n.217-98G>T
ENST00000465127.1:c.172-296423G>T ENSP00000417050.1:n.172-296423G>T
ENST00000488812.1:n.309-98G>T
NM_000531.5:c.217-98G>T NP_000522.3:n.217-98G>T
XM_017029556.1:c.217-98G>T XP_016885045.1:n.217-98G>T
NM_000531.6:c.217-98G>T MANE Select NP_000522.3:n.217-98G>T
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