Canonical Allele Identifier: CA2693443334
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38369739-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369739A>T , CM000685.2:g.38369739A>T GRCh38
NC_000023.10:g.38228992A>T , CM000685.1:g.38228992A>T GRCh37
NC_000023.9:g.38113936A>T NCBI36
NG_008471.1:g.22257A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.217-57A>T MANE Select ENSP00000039007.4:n.217-57A>T
ENST00000643344.1:c.217-57A>T ENSP00000496606.1:n.217-57A>T
ENST00000039007.4:c.217-57A>T ENSP00000039007.4:n.217-57A>T
ENST00000465127.1:c.172-296382A>T ENSP00000417050.1:n.172-296382A>T
ENST00000488812.1:n.309-57A>T
NM_000531.5:c.217-57A>T NP_000522.3:n.217-57A>T
XM_017029556.1:c.217-57A>T XP_016885045.1:n.217-57A>T
NM_000531.6:c.217-57A>T MANE Select NP_000522.3:n.217-57A>T