Canonical Allele Identifier: CA640867466

Gene: OTC

Linked Data

• dbSNP Id: rs1241667172
• gnomAD v2: X-38262824-A-G
• gnomAD v4: X-38403571-A-G
• MyVariant Identifiers: chrX:g.38262824A>G (hg19) ; chrX:g.38403571A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403571A>G , CM000685.2:g.38403571A>G	GRCh38
NC_000023.10:g.38262824A>G , CM000685.1:g.38262824A>G	GRCh37
NC_000023.9:g.38147768A>G	NCBI36
NG_008471.1:g.56089A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.541-47A>G MANE Select	ENSP00000039007.4:n.541-47A>G
ENST00000643344.1:c.*291-47A>G	ENSP00000496606.1:n.*291-47A>G
ENST00000039007.4:c.541-47A>G	ENSP00000039007.4:n.541-47A>G
ENST00000465127.1:c.172-262550A>G	ENSP00000417050.1:n.172-262550A>G
ENST00000488812.1:n.578-47A>G
NM_000531.5:c.541-47A>G	NP_000522.3:n.541-47A>G
XM_017029556.1:c.541-47A>G	XP_016885045.1:n.541-47A>G
NM_000531.6:c.541-47A>G MANE Select	NP_000522.3:n.541-47A>G