Canonical Allele Identifier: CA10385897
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 2083011
ClinVar RCV Id: RCV003009009 RCV004526215
dbSNP Id: rs72558416
ExAC: X:38262952 G / T
gnomAD v2: X-38262952-G-T
gnomAD v4: X-38403699-G-T
MyVariant Identifiers: chrX:g.38262952G>T (hg19) chrX:g.38403699G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403699G>T , CM000685.2:g.38403699G>T GRCh38
NC_000023.10:g.38262952G>T , CM000685.1:g.38262952G>T GRCh37
NC_000023.9:g.38147896G>T NCBI36
NG_008471.1:g.56217G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.622G>T MANE Select ENSP00000039007.4:p.Ala208Ser
ENST00000643344.1:c.*372G>T ENSP00000496606.1:n.*372G>T
ENST00000039007.4:c.622G>T ENSP00000039007.4:p.Ala208Ser
ENST00000465127.1:c.172-262422G>T ENSP00000417050.1:n.172-262422G>T
NM_000531.5:c.622G>T NP_000522.3:p.Ala208Ser
XM_017029556.1:c.622G>T XP_016885045.1:p.Ala208Ser
NM_000531.6:c.622G>T MANE Select NP_000522.3:p.Ala208Ser
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