Canonical Allele Identifier: CA2693442981

Gene: OTC

Linked Data

• gnomAD v4: X-38403489-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403489A>T , CM000685.2:g.38403489A>T	GRCh38
NC_000023.10:g.38262742A>T , CM000685.1:g.38262742A>T	GRCh37
NC_000023.9:g.38147686A>T	NCBI36
NG_008471.1:g.56007A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.541-129A>T MANE Select	ENSP00000039007.4:n.541-129A>T
ENST00000643344.1:c.*291-129A>T	ENSP00000496606.1:n.*291-129A>T
ENST00000039007.4:c.541-129A>T	ENSP00000039007.4:n.541-129A>T
ENST00000465127.1:c.172-262632A>T	ENSP00000417050.1:n.172-262632A>T
ENST00000488812.1:n.578-129A>T
NM_000531.5:c.541-129A>T	NP_000522.3:n.541-129A>T
XM_017029556.1:c.541-129A>T	XP_016885045.1:n.541-129A>T
NM_000531.6:c.541-129A>T MANE Select	NP_000522.3:n.541-129A>T