Canonical Allele Identifier: CA10385791
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs72554305
ExAC: X:38226572 C / G
gnomAD v2: X-38226572-C-G
gnomAD v4: X-38367319-C-G
MyVariant Identifiers: chrX:g.38226572C>G (hg19) chrX:g.38367319C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367319C>G , CM000685.2:g.38367319C>G GRCh38
NC_000023.10:g.38226572C>G , CM000685.1:g.38226572C>G GRCh37
NC_000023.9:g.38111516C>G NCBI36
NG_008471.1:g.19837C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.106C>G MANE Select ENSP00000039007.4:p.Gln36Glu
ENST00000643344.1:c.106C>G ENSP00000496606.1:p.Gln36Glu
ENST00000039007.4:c.106C>G ENSP00000039007.4:p.Gln36Glu
ENST00000465127.1:c.172-298802C>G ENSP00000417050.1:n.172-298802C>G
ENST00000488812.1:n.198C>G
NM_000531.5:c.106C>G NP_000522.3:p.Gln36Glu
XM_017029556.1:c.106C>G XP_016885045.1:p.Gln36Glu
NM_000531.6:c.106C>G MANE Select NP_000522.3:p.Gln36Glu
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