Canonical Allele Identifier: CA515643901
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38367297-A-G
MyVariant Identifiers: chrX:g.38226550A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367297A>G , CM000685.2:g.38367297A>G GRCh38
NC_000023.10:g.38226550A>G , CM000685.1:g.38226550A>G GRCh37
NC_000023.9:g.38111494A>G NCBI36
NG_008471.1:g.19815A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.84A>G MANE Select ENSP00000039007.4:p.Gly28=
ENST00000643344.1:c.84A>G ENSP00000496606.1:p.Gly28=
ENST00000039007.4:c.84A>G ENSP00000039007.4:p.Gly28=
ENST00000465127.1:c.172-298824A>G ENSP00000417050.1:n.172-298824A>G
ENST00000488812.1:n.176A>G
NM_000531.5:c.84A>G NP_000522.3:p.Gly28=
XM_017029556.1:c.84A>G XP_016885045.1:p.Gly28=
NM_000531.6:c.84A>G MANE Select NP_000522.3:p.Gly28=