Canonical Allele Identifier: CA10385836
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs377576551
ExAC: X:38240590 T / G
gnomAD v2: X-38240590-T-G
gnomAD v4: X-38381337-T-G
MyVariant Identifiers: chrX:g.38240590T>G (hg19) chrX:g.38381337T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38381337T>G , CM000685.2:g.38381337T>G GRCh38
NC_000023.10:g.38240590T>G , CM000685.1:g.38240590T>G GRCh37
NC_000023.9:g.38125534T>G NCBI36
NG_008471.1:g.33855T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.299-5T>G MANE Select ENSP00000039007.4:n.299-5T>G
ENST00000643344.1:c.*49-5T>G ENSP00000496606.1:n.*49-5T>G
ENST00000039007.4:c.299-5T>G ENSP00000039007.4:n.299-5T>G
ENST00000465127.1:c.172-284784T>G ENSP00000417050.1:n.172-284784T>G
ENST00000488812.1:n.354-23T>G
NM_000531.5:c.299-5T>G NP_000522.3:n.299-5T>G
XM_017029556.1:c.299-5T>G XP_016885045.1:n.299-5T>G
NM_000531.6:c.299-5T>G MANE Select NP_000522.3:n.299-5T>G
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