Canonical Allele Identifier: CA10385902
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs779852274
ExAC: X:38262969 G / A
gnomAD v2: X-38262969-G-A
gnomAD v4: X-38403716-G-A
MyVariant Identifiers: chrX:g.38262969G>A (hg19) chrX:g.38403716G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403716G>A , CM000685.2:g.38403716G>A GRCh38
NC_000023.10:g.38262969G>A , CM000685.1:g.38262969G>A GRCh37
NC_000023.9:g.38147913G>A NCBI36
NG_008471.1:g.56234G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.639G>A MANE Select ENSP00000039007.4:p.Met213Ile
ENST00000643344.1:c.*389G>A ENSP00000496606.1:n.*389G>A
ENST00000039007.4:c.639G>A ENSP00000039007.4:p.Met213Ile
ENST00000465127.1:c.172-262405G>A ENSP00000417050.1:n.172-262405G>A
NM_000531.5:c.639G>A NP_000522.3:p.Met213Ile
XM_017029556.1:c.639G>A XP_016885045.1:p.Met213Ile
NM_000531.6:c.639G>A MANE Select NP_000522.3:p.Met213Ile
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