Canonical Allele Identifier: CA412715683
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1469574
ClinVar RCV Id: RCV001994992

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367290G>T , CM000685.2:g.38367290G>T GRCh38
NC_000023.10:g.38226543G>T , CM000685.1:g.38226543G>T GRCh37
NC_000023.9:g.38111487G>T NCBI36
NG_008471.1:g.19808G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.78-1G>T MANE Select ENSP00000039007.4:n.78-1G>T
ENST00000643344.1:c.78-1G>T ENSP00000496606.1:n.78-1G>T
ENST00000039007.4:c.78-1G>T ENSP00000039007.4:n.78-1G>T
ENST00000465127.1:c.172-298831G>T ENSP00000417050.1:n.172-298831G>T
ENST00000488812.1:n.170-1G>T
NM_000531.5:c.78-1G>T NP_000522.3:n.78-1G>T
XM_017029556.1:c.78-1G>T XP_016885045.1:n.78-1G>T
NM_000531.6:c.78-1G>T MANE Select NP_000522.3:n.78-1G>T