Canonical Allele Identifier: CA10385965

Gene: OTC

Linked Data

• ClinVar Variation Id: 523373
• ClinVar RCV Id: RCV000626697 ; RCV001195864
• dbSNP Id: rs375524303
• ExAC: X:38271263 A / T
• gnomAD v2: X-38271263-A-T
• gnomAD v3: X-38412010-A-T
• gnomAD v4: X-38412010-A-T
• MyVariant Identifiers: chrX:g.38271263A>T (hg19) ; chrX:g.38412010A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38412010A>T , CM000685.2:g.38412010A>T	GRCh38
NC_000023.10:g.38271263A>T , CM000685.1:g.38271263A>T	GRCh37
NC_000023.9:g.38156207A>T	NCBI36
NG_008471.1:g.64528A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.1005+11A>T MANE Select	ENSP00000039007.4:n.1005+11A>T
ENST00000643344.1:c.*755+11A>T	ENSP00000496606.1:n.*755+11A>T
ENST00000039007.4:c.1005+11A>T	ENSP00000039007.4:n.1005+11A>T
ENST00000465127.1:c.172-254111A>T	ENSP00000417050.1:n.172-254111A>T
NM_000531.5:c.1005+11A>T	NP_000522.3:n.1005+11A>T
NM_000531.6:c.1005+11A>T MANE Select	NP_000522.3:n.1005+11A>T