Canonical Allele Identifier: CA2424871638
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs2068314509
gnomAD v4: X-38369745-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369745T>C , CM000685.2:g.38369745T>C GRCh38
NC_000023.10:g.38228998T>C , CM000685.1:g.38228998T>C GRCh37
NC_000023.9:g.38113942T>C NCBI36
NG_008471.1:g.22263T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.217-51T>C MANE Select ENSP00000039007.4:n.217-51T>C
ENST00000643344.1:c.217-51T>C ENSP00000496606.1:n.217-51T>C
ENST00000039007.4:c.217-51T>C ENSP00000039007.4:n.217-51T>C
ENST00000465127.1:c.172-296376T>C ENSP00000417050.1:n.172-296376T>C
ENST00000488812.1:n.309-51T>C
NM_000531.5:c.217-51T>C NP_000522.3:n.217-51T>C
XM_017029556.1:c.217-51T>C XP_016885045.1:n.217-51T>C
NM_000531.6:c.217-51T>C MANE Select NP_000522.3:n.217-51T>C
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