Canonical Allele Identifier: CA515642226
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38268170A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408917A>G , CM000685.2:g.38408917A>G GRCh38
NC_000023.10:g.38268170A>G , CM000685.1:g.38268170A>G GRCh37
NC_000023.9:g.38153114A>G NCBI36
NG_008471.1:g.61435A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.759A>G MANE Select ENSP00000039007.4:p.Ala253=
ENST00000643344.1:c.*509A>G ENSP00000496606.1:n.*509A>G
ENST00000039007.4:c.759A>G ENSP00000039007.4:p.Ala253=
ENST00000465127.1:c.172-257204A>G ENSP00000417050.1:n.172-257204A>G
NM_000531.5:c.759A>G NP_000522.3:p.Ala253=
XM_017029556.1:c.759A>G XP_016885045.1:p.Ala253=
NM_000531.6:c.759A>G MANE Select NP_000522.3:p.Ala253=