Canonical Allele Identifier: CA412725326
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38403648-C-G
MyVariant Identifiers: chrX:g.38262901C>G (hg19) chrX:g.38403648C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403648C>G , CM000685.2:g.38403648C>G GRCh38
NC_000023.10:g.38262901C>G , CM000685.1:g.38262901C>G GRCh37
NC_000023.9:g.38147845C>G NCBI36
NG_008471.1:g.56166C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.571C>G MANE Select ENSP00000039007.4:p.Leu191Val
ENST00000643344.1:c.*321C>G ENSP00000496606.1:n.*321C>G
ENST00000039007.4:c.571C>G ENSP00000039007.4:p.Leu191Val
ENST00000465127.1:c.172-262473C>G ENSP00000417050.1:n.172-262473C>G
ENST00000488812.1:n.608C>G
NM_000531.5:c.571C>G NP_000522.3:p.Leu191Val
XM_017029556.1:c.571C>G XP_016885045.1:p.Leu191Val
NM_000531.6:c.571C>G MANE Select NP_000522.3:p.Leu191Val
Search 100 bp 5'
Search 100 bp 3'