Canonical Allele Identifier: CA10385899
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 426468
ClinVar RCV Id: RCV000489120 RCV001829398
dbSNP Id: rs72558417
ExAC: X:38262956 C / G
gnomAD v2: X-38262956-C-G
gnomAD v3: X-38403703-C-G
gnomAD v4: X-38403703-C-G
MyVariant Identifiers: chrX:g.38262956C>G (hg19) chrX:g.38403703C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403703C>G , CM000685.2:g.38403703C>G GRCh38
NC_000023.10:g.38262956C>G , CM000685.1:g.38262956C>G GRCh37
NC_000023.9:g.38147900C>G NCBI36
NG_008471.1:g.56221C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.626C>G MANE Select ENSP00000039007.4:p.Ala209Gly
ENST00000643344.1:c.*376C>G ENSP00000496606.1:n.*376C>G
ENST00000039007.4:c.626C>G ENSP00000039007.4:p.Ala209Gly
ENST00000465127.1:c.172-262418C>G ENSP00000417050.1:n.172-262418C>G
NM_000531.5:c.626C>G NP_000522.3:p.Ala209Gly
XM_017029556.1:c.626C>G XP_016885045.1:p.Ala209Gly
NM_000531.6:c.626C>G MANE Select NP_000522.3:p.Ala209Gly
Search 100 bp 5'
Search 100 bp 3'