Canonical Allele Identifier: CA224848
Community Standard Title: NM_000531.6(OTC):c.944T>A (p.Val315Asp)
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411938T>A , CM000685.2:g.38411938T>A GRCh38
NC_000023.10:g.38271191T>A , CM000685.1:g.38271191T>A GRCh37
NC_000023.9:g.38156135T>A NCBI36
NG_008471.1:g.64456T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000531.6:c.944T>A MANE Select NP_000522.3:p.Val315Asp
ENST00000039007.5:c.944T>A MANE Select ENSP00000039007.4:p.Val315Asp
NM_000531.5:c.944T>A NP_000522.3:p.Val315Asp
ENST00000039007.4:c.944T>A ENSP00000039007.4:p.Val315Asp
ENST00000465127.1:c.172-254183T>A ENSP00000417050.1:n.172-254183T>A
ENST00000643344.1:c.*694T>A ENSP00000496606.1:n.*694T>A
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