Canonical Allele Identifier: CA412723636

Gene: OTC

Linked Data

• ClinVar Variation Id: 862420
• ClinVar RCV Id: RCV001069139
• dbSNP Id: rs72556272
• MyVariant Identifiers: chrX:g.38260626G>T (hg19) ; chrX:g.38401373G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401373G>T , CM000685.2:g.38401373G>T	GRCh38
NC_000023.10:g.38260626G>T , CM000685.1:g.38260626G>T	GRCh37
NC_000023.9:g.38145570G>T	NCBI36
NG_008471.1:g.53891G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.485G>T MANE Select	ENSP00000039007.4:p.Gly162Val
ENST00000643344.1:c.*235G>T	ENSP00000496606.1:n.*235G>T
ENST00000039007.4:c.485G>T	ENSP00000039007.4:p.Gly162Val
ENST00000465127.1:c.172-264748G>T	ENSP00000417050.1:n.172-264748G>T
ENST00000488812.1:n.522G>T
NM_000531.5:c.485G>T	NP_000522.3:p.Gly162Val
XM_017029556.1:c.485G>T	XP_016885045.1:p.Gly162Val
NM_000531.6:c.485G>T MANE Select	NP_000522.3:p.Gly162Val