Canonical Allele Identifier: CA412723206
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38268221A>T (hg19) chrX:g.38408968A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408968A>T , CM000685.2:g.38408968A>T GRCh38
NC_000023.10:g.38268221A>T , CM000685.1:g.38268221A>T GRCh37
NC_000023.9:g.38153165A>T NCBI36
NG_008471.1:g.61486A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.810A>T MANE Select ENSP00000039007.4:p.Gln270His
ENST00000643344.1:c.*560A>T ENSP00000496606.1:n.*560A>T
ENST00000039007.4:c.810A>T ENSP00000039007.4:p.Gln270His
ENST00000465127.1:c.172-257153A>T ENSP00000417050.1:n.172-257153A>T
NM_000531.5:c.810A>T NP_000522.3:p.Gln270His
XM_017029556.1:c.810A>T XP_016885045.1:p.Gln270His
NM_000531.6:c.810A>T MANE Select NP_000522.3:p.Gln270His
Search 100 bp 5'
Search 100 bp 3'