Canonical Allele Identifier: CA640863192
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs1403563844
gnomAD v2: X-38226350-G-A
gnomAD v3: X-38367097-G-A
gnomAD v4: X-38367097-G-A
MyVariant Identifiers: chrX:g.38226350G>A (hg19) chrX:g.38367097G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367097G>A , CM000685.2:g.38367097G>A GRCh38
NC_000023.10:g.38226350G>A , CM000685.1:g.38226350G>A GRCh37
NC_000023.9:g.38111294G>A NCBI36
NG_008471.1:g.19615G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.78-194G>A MANE Select ENSP00000039007.4:n.78-194G>A
ENST00000643344.1:c.78-194G>A ENSP00000496606.1:n.78-194G>A
ENST00000039007.4:c.78-194G>A ENSP00000039007.4:n.78-194G>A
ENST00000465127.1:c.172-299024G>A ENSP00000417050.1:n.172-299024G>A
ENST00000488812.1:n.170-194G>A
NM_000531.5:c.78-194G>A NP_000522.3:n.78-194G>A
XM_017029556.1:c.78-194G>A XP_016885045.1:n.78-194G>A
NM_000531.6:c.78-194G>A MANE Select NP_000522.3:n.78-194G>A
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