Canonical Allele Identifier: CA412721192

Gene: OTC

Linked Data

• dbSNP Id: rs1241382190
• gnomAD v3: X-38408755-A-C
• gnomAD v4: X-38408755-A-C
• MyVariant Identifiers: chrX:g.38268008A>C (hg19) ; chrX:g.38408755A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408755A>C , CM000685.2:g.38408755A>C	GRCh38
NC_000023.10:g.38268008A>C , CM000685.1:g.38268008A>C	GRCh37
NC_000023.9:g.38152952A>C	NCBI36
NG_008471.1:g.61273A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.677A>C MANE Select	ENSP00000039007.4:p.Asp226Ala
ENST00000643344.1:c.*427A>C	ENSP00000496606.1:n.*427A>C
ENST00000039007.4:c.677A>C	ENSP00000039007.4:p.Asp226Ala
ENST00000465127.1:c.172-257366A>C	ENSP00000417050.1:n.172-257366A>C
NM_000531.5:c.677A>C	NP_000522.3:p.Asp226Ala
XM_017029556.1:c.677A>C	XP_016885045.1:p.Asp226Ala
NM_000531.6:c.677A>C MANE Select	NP_000522.3:p.Asp226Ala