Canonical Allele Identifier: CA412720981
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38267994G>T (hg19) chrX:g.38408741G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408741G>T , CM000685.2:g.38408741G>T GRCh38
NC_000023.10:g.38267994G>T , CM000685.1:g.38267994G>T GRCh37
NC_000023.9:g.38152938G>T NCBI36
NG_008471.1:g.61259G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.664-1G>T MANE Select ENSP00000039007.4:n.664-1G>T
ENST00000643344.1:c.*414-1G>T ENSP00000496606.1:n.*414-1G>T
ENST00000039007.4:c.664-1G>T ENSP00000039007.4:n.664-1G>T
ENST00000465127.1:c.172-257380G>T ENSP00000417050.1:n.172-257380G>T
NM_000531.5:c.664-1G>T NP_000522.3:n.664-1G>T
XM_017029556.1:c.664-1G>T XP_016885045.1:n.664-1G>T
NM_000531.6:c.664-1G>T MANE Select NP_000522.3:n.664-1G>T
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