Canonical Allele Identifier: CA378636079
Gene: OAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124405437T>A , CM000672.2:g.124405437T>A GRCh38
NC_000010.10:g.126094006T>A , CM000672.1:g.126094006T>A GRCh37
NC_000010.9:g.126083996T>A NCBI36
NG_008861.1:g.18514A>T , LRG_685:g.18514A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368845.6:c.647A>T MANE Select ENSP00000357838.5:p.Glu216Val
ENST00000368845.5:c.647A>T ENSP00000357838.5:p.Glu216Val
ENST00000467675.5:n.448A>T
ENST00000483711.1:n.493A>T
ENST00000539214.5:c.233A>T ENSP00000439042.1:p.Glu78Val
NM_000274.3:c.647A>T , LRG_685t1:c.647A>T NP_000265.1:p.Glu216Val
NM_001171814.1:c.233A>T NP_001165285.1:p.Glu78Val
XM_006717871.2:c.647A>T XP_006717934.1:p.Glu216Val
XM_011539833.1:c.647A>T XP_011538135.1:p.Glu216Val
XM_011539834.1:c.647A>T XP_011538136.1:p.Glu216Val
NM_001322965.1:c.647A>T NP_001309894.1:p.Glu216Val
NM_001322966.1:c.647A>T NP_001309895.1:p.Glu216Val
NM_001322967.1:c.647A>T NP_001309896.1:p.Glu216Val
NM_001322968.1:c.647A>T NP_001309897.1:p.Glu216Val
NM_001322969.1:c.647A>T NP_001309898.1:p.Glu216Val
NM_001322970.1:c.647A>T NP_001309899.1:p.Glu216Val
NM_001322971.1:c.326A>T NP_001309900.1:p.Glu109Val
NM_001322974.1:c.47A>T NP_001309903.1:p.Glu16Val
XM_017016279.1:c.47A>T XP_016871768.1:p.Glu16Val
NM_000274.4:c.647A>T MANE Select NP_000265.1:p.Glu216Val
NM_001322965.2:c.647A>T NP_001309894.1:p.Glu216Val
NM_001322966.2:c.647A>T NP_001309895.1:p.Glu216Val
NM_001322967.2:c.647A>T NP_001309896.1:p.Glu216Val
NM_001322968.2:c.647A>T NP_001309897.1:p.Glu216Val
NM_001322969.2:c.647A>T NP_001309898.1:p.Glu216Val
NM_001322970.2:c.647A>T NP_001309899.1:p.Glu216Val
NM_001322971.2:c.326A>T NP_001309900.1:p.Glu109Val
NM_001322974.2:c.47A>T NP_001309903.1:p.Glu16Val
NM_001171814.2:c.233A>T NP_001165285.1:p.Glu78Val