Canonical Allele Identifier: CA412723098

Gene: OTC

Linked Data

• gnomAD v4: X-38408960-A-T
• MyVariant Identifiers: chrX:g.38268213A>T (hg19) ; chrX:g.38408960A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408960A>T , CM000685.2:g.38408960A>T	GRCh38
NC_000023.10:g.38268213A>T , CM000685.1:g.38268213A>T	GRCh37
NC_000023.9:g.38153157A>T	NCBI36
NG_008471.1:g.61478A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.802A>T MANE Select	ENSP00000039007.4:p.Met268Leu
ENST00000643344.1:c.*552A>T	ENSP00000496606.1:n.*552A>T
ENST00000039007.4:c.802A>T	ENSP00000039007.4:p.Met268Leu
ENST00000465127.1:c.172-257161A>T	ENSP00000417050.1:n.172-257161A>T
NM_000531.5:c.802A>T	NP_000522.3:p.Met268Leu
XM_017029556.1:c.802A>T	XP_016885045.1:p.Met268Leu
NM_000531.6:c.802A>T MANE Select	NP_000522.3:p.Met268Leu