Canonical Allele Identifier: CA2693443091
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38403817-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403817G>C , CM000685.2:g.38403817G>C GRCh38
NC_000023.10:g.38263070G>C , CM000685.1:g.38263070G>C GRCh37
NC_000023.9:g.38148014G>C NCBI36
NG_008471.1:g.56335G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.663+77G>C MANE Select ENSP00000039007.4:n.663+77G>C
ENST00000643344.1:c.*413+77G>C ENSP00000496606.1:n.*413+77G>C
ENST00000039007.4:c.663+77G>C ENSP00000039007.4:n.663+77G>C
ENST00000465127.1:c.172-262304G>C ENSP00000417050.1:n.172-262304G>C
NM_000531.5:c.663+77G>C NP_000522.3:n.663+77G>C
XM_017029556.1:c.663+77G>C XP_016885045.1:n.663+77G>C
NM_000531.6:c.663+77G>C MANE Select NP_000522.3:n.663+77G>C
Search 100 bp 5'
Search 100 bp 3'