Canonical Allele Identifier: CA640861367
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs1264070410
gnomAD v2: X-38211926-C-T
gnomAD v3: X-38352673-C-T
gnomAD v4: X-38352673-C-T
MyVariant Identifiers: chrX:g.38211926C>T (hg19) chrX:g.38352673C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38352673C>T , CM000685.2:g.38352673C>T GRCh38
NC_000023.10:g.38211926C>T , CM000685.1:g.38211926C>T GRCh37
NC_000023.9:g.38096870C>T NCBI36
NG_008471.1:g.5191C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.-24C>T MANE Select ENSP00000039007.4:n.-24C>T
ENST00000643344.1:c.-24C>T ENSP00000496606.1:n.-24C>T
ENST00000039007.4:c.-24C>T ENSP00000039007.4:n.-24C>T
ENST00000465127.1:c.172-313448C>T ENSP00000417050.1:n.172-313448C>T
ENST00000488812.1:n.69C>T
NM_000531.5:c.-24C>T NP_000522.3:n.-24C>T
XM_017029556.1:c.-24C>T XP_016885045.1:n.-24C>T
NM_000531.6:c.-24C>T MANE Select NP_000522.3:n.-24C>T
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