Canonical Allele Identifier: CA10385908
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs772902948
ExAC: X:38263035 T / A
gnomAD v2: X-38263035-T-A
gnomAD v4: X-38403782-T-A
MyVariant Identifiers: chrX:g.38263035T>A (hg19) chrX:g.38403782T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403782T>A , CM000685.2:g.38403782T>A GRCh38
NC_000023.10:g.38263035T>A , CM000685.1:g.38263035T>A GRCh37
NC_000023.9:g.38147979T>A NCBI36
NG_008471.1:g.56300T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.663+42T>A MANE Select ENSP00000039007.4:n.663+42T>A
ENST00000643344.1:c.*413+42T>A ENSP00000496606.1:n.*413+42T>A
ENST00000039007.4:c.663+42T>A ENSP00000039007.4:n.663+42T>A
ENST00000465127.1:c.172-262339T>A ENSP00000417050.1:n.172-262339T>A
NM_000531.5:c.663+42T>A NP_000522.3:n.663+42T>A
XM_017029556.1:c.663+42T>A XP_016885045.1:n.663+42T>A
NM_000531.6:c.663+42T>A MANE Select NP_000522.3:n.663+42T>A
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