Canonical Allele Identifier: CA412723169

Gene: OTC

Linked Data

• gnomAD v4: X-38408964-G-T
• MyVariant Identifiers: chrX:g.38268217G>T (hg19) ; chrX:g.38408964G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408964G>T , CM000685.2:g.38408964G>T	GRCh38
NC_000023.10:g.38268217G>T , CM000685.1:g.38268217G>T	GRCh37
NC_000023.9:g.38153161G>T	NCBI36
NG_008471.1:g.61482G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.806G>T MANE Select	ENSP00000039007.4:p.Gly269Val
ENST00000643344.1:c.*556G>T	ENSP00000496606.1:n.*556G>T
ENST00000039007.4:c.806G>T	ENSP00000039007.4:p.Gly269Val
ENST00000465127.1:c.172-257157G>T	ENSP00000417050.1:n.172-257157G>T
NM_000531.5:c.806G>T	NP_000522.3:p.Gly269Val
XM_017029556.1:c.806G>T	XP_016885045.1:p.Gly269Val
NM_000531.6:c.806G>T MANE Select	NP_000522.3:p.Gly269Val