Canonical Allele Identifier: CA412721093
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38268002A>C (hg19) chrX:g.38408749A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408749A>C , CM000685.2:g.38408749A>C GRCh38
NC_000023.10:g.38268002A>C , CM000685.1:g.38268002A>C GRCh37
NC_000023.9:g.38152946A>C NCBI36
NG_008471.1:g.61267A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.671A>C MANE Select ENSP00000039007.4:p.Glu224Ala
ENST00000643344.1:c.*421A>C ENSP00000496606.1:n.*421A>C
ENST00000039007.4:c.671A>C ENSP00000039007.4:p.Glu224Ala
ENST00000465127.1:c.172-257372A>C ENSP00000417050.1:n.172-257372A>C
NM_000531.5:c.671A>C NP_000522.3:p.Glu224Ala
XM_017029556.1:c.671A>C XP_016885045.1:p.Glu224Ala
NM_000531.6:c.671A>C MANE Select NP_000522.3:p.Glu224Ala
Search 100 bp 5'
Search 100 bp 3'