Canonical Allele Identifier: CA10385877
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs781211008
ExAC: X:38260627 G / T
gnomAD v2: X-38260627-G-T
gnomAD v4: X-38401374-G-T
MyVariant Identifiers: chrX:g.38260627G>T (hg19) chrX:g.38401374G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401374G>T , CM000685.2:g.38401374G>T GRCh38
NC_000023.10:g.38260627G>T , CM000685.1:g.38260627G>T GRCh37
NC_000023.9:g.38145571G>T NCBI36
NG_008471.1:g.53892G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.486G>T MANE Select ENSP00000039007.4:p.Gly162=
ENST00000643344.1:c.*236G>T ENSP00000496606.1:n.*236G>T
ENST00000039007.4:c.486G>T ENSP00000039007.4:p.Gly162=
ENST00000465127.1:c.172-264747G>T ENSP00000417050.1:n.172-264747G>T
ENST00000488812.1:n.523G>T
NM_000531.5:c.486G>T NP_000522.3:p.Gly162=
XM_017029556.1:c.486G>T XP_016885045.1:p.Gly162=
NM_000531.6:c.486G>T MANE Select NP_000522.3:p.Gly162=
Search 100 bp 5'
Search 100 bp 3'