Canonical Allele Identifier: CA412725972

Gene: OTC

Linked Data

• dbSNP Id: rs2068502681
• MyVariant Identifiers: chrX:g.38262979G>T (hg19) ; chrX:g.38403726G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403726G>T , CM000685.2:g.38403726G>T	GRCh38
NC_000023.10:g.38262979G>T , CM000685.1:g.38262979G>T	GRCh37
NC_000023.9:g.38147923G>T	NCBI36
NG_008471.1:g.56244G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.649G>T MANE Select	ENSP00000039007.4:p.Ala217Ser
ENST00000643344.1:c.*399G>T	ENSP00000496606.1:n.*399G>T
ENST00000039007.4:c.649G>T	ENSP00000039007.4:p.Ala217Ser
ENST00000465127.1:c.172-262395G>T	ENSP00000417050.1:n.172-262395G>T
NM_000531.5:c.649G>T	NP_000522.3:p.Ala217Ser
XM_017029556.1:c.649G>T	XP_016885045.1:p.Ala217Ser
NM_000531.6:c.649G>T MANE Select	NP_000522.3:p.Ala217Ser