Canonical Allele Identifier: CA515650505
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38260660G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401407G>C , CM000685.2:g.38401407G>C GRCh38
NC_000023.10:g.38260660G>C , CM000685.1:g.38260660G>C GRCh37
NC_000023.9:g.38145604G>C NCBI36
NG_008471.1:g.53925G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.519G>C MANE Select ENSP00000039007.4:p.Leu173=
ENST00000643344.1:c.*269G>C ENSP00000496606.1:n.*269G>C
ENST00000039007.4:c.519G>C ENSP00000039007.4:p.Leu173=
ENST00000465127.1:c.172-264714G>C ENSP00000417050.1:n.172-264714G>C
ENST00000488812.1:n.556G>C
NM_000531.5:c.519G>C NP_000522.3:p.Leu173=
XM_017029556.1:c.519G>C XP_016885045.1:p.Leu173=
NM_000531.6:c.519G>C MANE Select NP_000522.3:p.Leu173=
Search 100 bp 5'
Search 100 bp 3'