Canonical Allele Identifier: CA10385896
Gene: OTC HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.38403698C>T
GRCh37 chrX:g.38262951C>T
gnomAD v2:
X:38262951 C / T
gnomAD v3:
X:38403698 C / T
gnomAD v4:
chrX-38403698-C-T
Joint Max Group AF 0.00063915 (EAS)
Genomes Max Group AF 0.00055235 (EAS)
Exomes Max Group AF 0.00057522 (EAS)
ClinVar RCV:
RCV000320040
RCV002317876
ClinVar Variation:
368259
dbSNP:
72558415
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403698C>T , CM000685.2:g.38403698C>T GRCh38
NC_000023.10:g.38262951C>T , CM000685.1:g.38262951C>T GRCh37
NC_000023.9:g.38147895C>T NCBI36
NG_008471.1:g.56216C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.621C>T MANE Select ENSP00000039007.4:p.Ser207=
ENST00000643344.1:c.*371C>T ENSP00000496606.1:n.*371C>T
ENST00000039007.4:c.621C>T ENSP00000039007.4:p.Ser207=
ENST00000465127.1:c.172-262423C>T ENSP00000417050.1:n.172-262423C>T
NM_000531.5:c.621C>T NP_000522.3:p.Ser207=
XM_017029556.1:c.621C>T XP_016885045.1:p.Ser207=
NM_000531.6:c.621C>T MANE Select NP_000522.3:p.Ser207=
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