Canonical Allele Identifier: CA412721183
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38268007G>C (hg19) chrX:g.38408754G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408754G>C , CM000685.2:g.38408754G>C GRCh38
NC_000023.10:g.38268007G>C , CM000685.1:g.38268007G>C GRCh37
NC_000023.9:g.38152951G>C NCBI36
NG_008471.1:g.61272G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.676G>C MANE Select ENSP00000039007.4:p.Asp226His
ENST00000643344.1:c.*426G>C ENSP00000496606.1:n.*426G>C
ENST00000039007.4:c.676G>C ENSP00000039007.4:p.Asp226His
ENST00000465127.1:c.172-257367G>C ENSP00000417050.1:n.172-257367G>C
NM_000531.5:c.676G>C NP_000522.3:p.Asp226His
XM_017029556.1:c.676G>C XP_016885045.1:p.Asp226His
NM_000531.6:c.676G>C MANE Select NP_000522.3:p.Asp226His
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