Canonical Allele Identifier: CA2424870907
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs2068303266
gnomAD v4: X-38367578-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367578T>C , CM000685.2:g.38367578T>C GRCh38
NC_000023.10:g.38226831T>C , CM000685.1:g.38226831T>C GRCh37
NC_000023.9:g.38111775T>C NCBI36
NG_008471.1:g.20096T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.216+149T>C MANE Select ENSP00000039007.4:n.216+149T>C
ENST00000643344.1:c.216+149T>C ENSP00000496606.1:n.216+149T>C
ENST00000039007.4:c.216+149T>C ENSP00000039007.4:n.216+149T>C
ENST00000465127.1:c.172-298543T>C ENSP00000417050.1:n.172-298543T>C
ENST00000488812.1:n.308+149T>C
NM_000531.5:c.216+149T>C NP_000522.3:n.216+149T>C
XM_017029556.1:c.216+149T>C XP_016885045.1:n.216+149T>C
NM_000531.6:c.216+149T>C MANE Select NP_000522.3:n.216+149T>C