Canonical Allele Identifier: CA10385942
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs748896025
ExAC: X:38268212 C / T
gnomAD v2: X-38268212-C-T
gnomAD v4: X-38408959-C-T
MyVariant Identifiers: chrX:g.38268212C>T (hg19) chrX:g.38408959C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408959C>T , CM000685.2:g.38408959C>T GRCh38
NC_000023.10:g.38268212C>T , CM000685.1:g.38268212C>T GRCh37
NC_000023.9:g.38153156C>T NCBI36
NG_008471.1:g.61477C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.801C>T MANE Select ENSP00000039007.4:p.Ser267=
ENST00000643344.1:c.*551C>T ENSP00000496606.1:n.*551C>T
ENST00000039007.4:c.801C>T ENSP00000039007.4:p.Ser267=
ENST00000465127.1:c.172-257162C>T ENSP00000417050.1:n.172-257162C>T
NM_000531.5:c.801C>T NP_000522.3:p.Ser267=
XM_017029556.1:c.801C>T XP_016885045.1:p.Ser267=
NM_000531.6:c.801C>T MANE Select NP_000522.3:p.Ser267=
Search 100 bp 5'
Search 100 bp 3'