Canonical Allele Identifier: CA412723312

Gene: OTC

Linked Data

• dbSNP Id: rs1180706085
• gnomAD v3: X-38401333-G-C
• gnomAD v4: X-38401333-G-C
• MyVariant Identifiers: chrX:g.38260586G>C (hg19) ; chrX:g.38401333G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401333G>C , CM000685.2:g.38401333G>C	GRCh38
NC_000023.10:g.38260586G>C , CM000685.1:g.38260586G>C	GRCh37
NC_000023.9:g.38145530G>C	NCBI36
NG_008471.1:g.53851G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.445G>C MANE Select	ENSP00000039007.4:p.Asp149His
ENST00000643344.1:c.*195G>C	ENSP00000496606.1:n.*195G>C
ENST00000039007.4:c.445G>C	ENSP00000039007.4:p.Asp149His
ENST00000465127.1:c.172-264788G>C	ENSP00000417050.1:n.172-264788G>C
ENST00000488812.1:n.482G>C
NM_000531.5:c.445G>C	NP_000522.3:p.Asp149His
XM_017029556.1:c.445G>C	XP_016885045.1:p.Asp149His
NM_000531.6:c.445G>C MANE Select	NP_000522.3:p.Asp149His