Canonical Allele Identifier: CA327944395

Gene: OTC

Linked Data

• dbSNP Id: rs929906600
• gnomAD v4: X-38403554-A-C
• MyVariant Identifiers: chrX:g.38262807A>C (hg19) ; chrX:g.38403554A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403554A>C , CM000685.2:g.38403554A>C	GRCh38
NC_000023.10:g.38262807A>C , CM000685.1:g.38262807A>C	GRCh37
NC_000023.9:g.38147751A>C	NCBI36
NG_008471.1:g.56072A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.541-64A>C MANE Select	ENSP00000039007.4:n.541-64A>C
ENST00000643344.1:c.*291-64A>C	ENSP00000496606.1:n.*291-64A>C
ENST00000039007.4:c.541-64A>C	ENSP00000039007.4:n.541-64A>C
ENST00000465127.1:c.172-262567A>C	ENSP00000417050.1:n.172-262567A>C
ENST00000488812.1:n.578-64A>C
NM_000531.5:c.541-64A>C	NP_000522.3:n.541-64A>C
XM_017029556.1:c.541-64A>C	XP_016885045.1:n.541-64A>C
NM_000531.6:c.541-64A>C MANE Select	NP_000522.3:n.541-64A>C