Canonical Allele Identifier: CA412723052
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38260553G>C (hg19) chrX:g.38401300G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401300G>C , CM000685.2:g.38401300G>C GRCh38
NC_000023.10:g.38260553G>C , CM000685.1:g.38260553G>C GRCh37
NC_000023.9:g.38145497G>C NCBI36
NG_008471.1:g.53818G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.412G>C MANE Select ENSP00000039007.4:p.Val138Leu
ENST00000643344.1:c.*162G>C ENSP00000496606.1:n.*162G>C
ENST00000039007.4:c.412G>C ENSP00000039007.4:p.Val138Leu
ENST00000465127.1:c.172-264821G>C ENSP00000417050.1:n.172-264821G>C
ENST00000488812.1:n.449G>C
NM_000531.5:c.412G>C NP_000522.3:p.Val138Leu
XM_017029556.1:c.412G>C XP_016885045.1:p.Val138Leu
NM_000531.6:c.412G>C MANE Select NP_000522.3:p.Val138Leu
Search 100 bp 5'
Search 100 bp 3'