Canonical Allele Identifier: CA515642232
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 509979
ClinVar RCV Id: RCV001707766 RCV002063328
dbSNP Id: rs1388386866
gnomAD v2: X-38268173-G-T
gnomAD v3: X-38408920-G-T
gnomAD v4: X-38408920-G-T
MyVariant Identifiers: chrX:g.38268173G>T (hg19) chrX:g.38408920G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408920G>T , CM000685.2:g.38408920G>T GRCh38
NC_000023.10:g.38268173G>T , CM000685.1:g.38268173G>T GRCh37
NC_000023.9:g.38153117G>T NCBI36
NG_008471.1:g.61438G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.762G>T MANE Select ENSP00000039007.4:p.Ala254=
ENST00000643344.1:c.*512G>T ENSP00000496606.1:n.*512G>T
ENST00000039007.4:c.762G>T ENSP00000039007.4:p.Ala254=
ENST00000465127.1:c.172-257201G>T ENSP00000417050.1:n.172-257201G>T
NM_000531.5:c.762G>T NP_000522.3:p.Ala254=
XM_017029556.1:c.762G>T XP_016885045.1:p.Ala254=
NM_000531.6:c.762G>T MANE Select NP_000522.3:p.Ala254=
Search 100 bp 5'
Search 100 bp 3'