Canonical Allele Identifier: CA412716280

Gene: OTC

Linked Data

• dbSNP Id: rs1359303276
• gnomAD v2: X-38226635-C-G
• MyVariant Identifiers: chrX:g.38226635C>G (hg19) ; chrX:g.38367382C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367382C>G , CM000685.2:g.38367382C>G	GRCh38
NC_000023.10:g.38226635C>G , CM000685.1:g.38226635C>G	GRCh37
NC_000023.9:g.38111579C>G	NCBI36
NG_008471.1:g.19900C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.169C>G MANE Select	ENSP00000039007.4:p.Leu57Val
ENST00000643344.1:c.169C>G	ENSP00000496606.1:p.Leu57Val
ENST00000039007.4:c.169C>G	ENSP00000039007.4:p.Leu57Val
ENST00000465127.1:c.172-298739C>G	ENSP00000417050.1:n.172-298739C>G
ENST00000488812.1:n.261C>G
NM_000531.5:c.169C>G	NP_000522.3:p.Leu57Val
XM_017029556.1:c.169C>G	XP_016885045.1:p.Leu57Val
NM_000531.6:c.169C>G MANE Select	NP_000522.3:p.Leu57Val