Canonical Allele Identifier: CA412716835
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38229066A>C (hg19) chrX:g.38369813A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369813A>C , CM000685.2:g.38369813A>C GRCh38
NC_000023.10:g.38229066A>C , CM000685.1:g.38229066A>C GRCh37
NC_000023.9:g.38114010A>C NCBI36
NG_008471.1:g.22331A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.234A>C MANE Select ENSP00000039007.4:p.Gln78His
ENST00000643344.1:c.234A>C ENSP00000496606.1:p.Gln78His
ENST00000039007.4:c.234A>C ENSP00000039007.4:p.Gln78His
ENST00000465127.1:c.172-296308A>C ENSP00000417050.1:n.172-296308A>C
ENST00000488812.1:n.326A>C
NM_000531.5:c.234A>C NP_000522.3:p.Gln78His
XM_017029556.1:c.234A>C XP_016885045.1:p.Gln78His
NM_000531.6:c.234A>C MANE Select NP_000522.3:p.Gln78His
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